1-FETAL GENETIC ULTRASOUND Dr Ahmed Esawy
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1-FETAL GENETIC ULTRASOUND Dr Ahmed Esawy Nuchal translucency (NT)
• Nasal bone hypoplasia
• Nuchal pad edema
• Echogenic bowel
• Echogenic focus in the heart (golf ball sign)
• Choroid plexus cysts
• Mild ventriculomegaly nonchromosomal
abnormalities when seen in isolation
• Mild renal pyelectasis
• Single umbilical artery
• Enlarged cisterna
Those of undefined association
• Clenched fists
• Rocker bottom feet
• Sandal gap
• Strawberry shaped skull
• Shortened long bones
Transcript of 1-FETAL GENETIC ULTRASOUND Dr Ahmed Esawy
DrAHMED ESAWY
Dr Ahmed Esawy
MBBS MSc
MD
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
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Normal nasal bone
DrAHMED ESAWY
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Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
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DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Dr Ahmed Esawy
MBBS MSc
MD
DrAHMED ESAWY
DrAHMED ESAWY
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Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Ultrasound Markers
bull Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
bull Minor ( Soft ) markers
Karyotype if associated with other findings
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Organ System Major( Hard ) MinorSoft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) lt 1st percentile and HPFL lt
25th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomaliesndash syndactyly
clinodactyly clenched fist radial ray
aplasia clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips micrognathia
macroglossia hypo- and hypertelorism
low set ears small ear
ndash
Major and Soft Markers of Aneuploidy
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Neck Cystic hygroma Nuchal fold
thickening
Cardiac
Endocardial cushion defect
ventricular septal defect
hypoplastic left heart syndrome
tetralogy of Fallot and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia
small bowel obstruction
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis
dysplastic renal disease and renal
agenesis
Mild pyelectasis
Others Intrauterine growth retardation in
second trimester hydrops
Two-vessel cord
single umbilical
Organ System Major( Hard ) MinorSoft Markers
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Definition of soft ultrasound markers bull Soft markers are minor ultrasound abnormalities
considered variants of normal which do not constitute a bull structural defect bull They may be associated with chromosomal or none
chromosomal abnormalities Soft markers include bull Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems bull Nuchal translucency (NT) bull Nasal bone hypoplasia bull Nuchal pad edema bull Echogenic bowel bull Echogenic focus in the heart (golf ball sign) bull Choroid plexus cysts bull Mild ventriculomegaly
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Those associated with an increased risk of non-chromosomal abnormalities when seen in isolation
bull Mild renal pyelectasis
bull Single umbilical artery
bull Enlarged cisterna
Those of undefined association
bull Clenched fists
bull Rocker bottom feet
bull Sandal gap
bull Strawberry shaped skull
bull Shortened long bones
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Minor markers
bull Wide iliac crest angle gt90 degree
bull Brachycephaly
bull Frontal lobe shortening
bull Abnormal short ear length
bull Flat face
bull Clinodactaly
bull Hypo-plasia of middle phalanx of the 5th digit
bull Sandal gap of great toe
bull Simian crease
bull Small cerebellar diameter DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Final remarks
bull Detection by ultrasound depend on personal experience
bull Proper timing of scan
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Disadvantages of soft markers bull 1- The exact significance of ultrasound soft markers is still uncertain
bull 2- It is operator dependent and therefore may be missed
bull 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment
bull 4- The counseling training and expertise required is currently difficult to bull achieve
bull 5- Some soft markers are transient and the significance is uncertain
bull 6- With better equipment more markers may become more evident which
may cause more concern to the prospective parents
bull 7- Unless caution is exercised and it is combined with other markers for abnormalities it may lead to unnecessary interventions DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
A Screening scan (16-20 weeks)
bull Nuchal fold
bull Echogenic bowel
bull Ventriculomegaly
bull Echogenic cardiac focus
bull Choroid plexus cyst
bull Single umbilical artery
bull Enlarged cisterna magna
bull Renal pyelectasis
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal translucency (NT)
bull measured between 11 ndash 14 weeks of pregnancy
bull It is a soft marker screening for
bull Chromosomal abnormalities (trisomy 18 and 21)
bull thoracic compression (diaphragmatic hernia)
bull Cardiac abnormalities
DD
bull cystic hygroma
bull Nuchal pad thickness
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
NT measure from one white line to the other
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
NT
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
NT
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal Pad thicknessfold bull It is the skin thickness in the posterior aspect of the fetal neck It
should be measured between 15 ndash 20 weeks of gestation bull This is the second-trimester form of nuchal translucency bull It is found in about 05 of fetuses and it may be of no pathological
significance bull sometimes associated with bull chromosomal defects bull cardiac anomalies bull infection bull genetic syndromes
bull isolated nuchal edema the risk for trisomy 21 may be 15 times the background178
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal fold
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal Fold
bull6mm or more significant
bull Full structural survey ndash a must
bull Sensitivity for Downs - 43 (Benacerraf)
bull Warrants Karyotyping even if isolated
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal edema or fold of more than 6mm
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
THICKENED NUCHAL FOLD
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Increased NT
Nuchal Pad thickness (6mm or over)
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency Chorionic villus sampling revealed trisomy 18 DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
fetus after termination of pregnancy demonstrating loose edematous skin over the neck
accounting for the nuchal translucency on ultrasound scanning
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Echogenic fetal bowel
bull Bowel as echogenic as bone
bull commonest cause is intra-amniotic bleeding
bull Associated with
bull Placental failure
Trisomy 21
Infection (CMV)
Cystic fibroisis
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Hyperechogenic bowel
This is found in about 05 of fetuses and is usually of no pathological significance but For isolated hyperechogenic bowel the risk for trisomy 21 may be three times the background DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
ECHOGENIC BOWEL
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Association with aneuploidy bull There is a high risk for association with trisomy 13 18 and 21 Association with structural abnormalities bull Echogenic bowel has been associated with an increased risk for bull Cystic fibrosis bull Congenital infection (cytomegalovirus [CMV] herpes parvovirus
rubella varicella and toxoplasmosis) bull Intra-amniotic bleeding bull Congenital malformations of the bowel bull Perinatal complications including intrauterine growth restriction
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Choroid plexus cysts
bull sonographically discrete fluid filled small cysts (lt 3 mm) in the choroid plexus within the lateral cerebral ventricles It is seen in 1-2 of fetuses scanned at 16 weeks and will almost always disappear by 26 weeks
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Isolated CP cysts 07 - 36 of normal fetuses no pathological significance
bull isolated CP cyst with no other abnormality calls for no intervention
bull 23 risk of chromosomal abnormality
bull They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21
bull In chromosomally normal babies associations with structural abnormalities
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Choroid plexus cysts
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Choroid Plexus Cysts
bull Unilateral or bilateral
bull Single or multiple
bull 3-10 mm
bull Regress by 24 weeks
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Choroid plexus cyst
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Warrants Karyotyping
Holoprosencephaly
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Alobar holoprosencephaly at 10 weeks Trisomy 18
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Enlarged Cisterna Magna
bull If the cisterna magna is subjectively increased a measurement should be taken
bull An isolated enlarged cisterna magna is not an indication for fetal karyotyping
With an enlarged cisterna magna expert review is recommended for follow-up ultrasounds and possible other imaging modalities
(for example MRI) and investigations
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
ENLARGED CISTERNA MAGNA
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Mild Ventricolomegaly (10-12 mm)
5 risk of later severe brain abnormality
15 risk of mild problems later
The commonest abnormality is trisomy 21 18 13 amp Triploidy
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
MILD VENTRICULOMEGALY lt 10 gt 15 mm
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Ventriculomegaly
LV gt 11mm
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Major Ventriculomegaly
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Echogenic Cardiac Focus
bull Located in the chordae tendinae not attached to ventricular walls
bull Moves with AV valves
bull 90 in LV single or multiple
bull 95 resolve spontaneously
bullIn high risk group 5 fold increase for Downs
Search for other markers ndash If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Echogenic intracardiac focus in the left ventricle of the heart
DrAHMED ESAWY
It is a focus of an echogenic small area in the fetal heart with echogenisity comparable or greater to the surrounding bone In low risk population most EICF disappear by term or after a short time after delivery
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Short long bones (femur and humerus)
bull Definition Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age bull Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level evaluation bull Short long bones may be associated with general skeletal
malformation or FGR Ultrasound screening for other bull long bones and serial growth measurements should be undertaken
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Short femur
If the femur is below the 5th centile and all other measurements are normal the baby is likely to be normal but rather short Rarely is this a sign of dwarfism short femur is found four times as commonly in trisomy 21 fetuses compared to normal fetuses However there is some evidence that isolated short femur may not be more common in trisomic than in normal fetuses
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Short proximal bones
Syndactaly is associated with Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers Rocker bottom feet and talipes with trisomy 18
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Simian crease
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Pelviectasis
bull Renal pelvis 5-10 mm with
no calyceal involvement
bull Unilateral or Bilateral
bull Scan for other markers
If in isolation no further action May indicate obstructive pathology ndash
follow up scans
Predictive values range from 133 to 1 340
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull MILD PYELECTASIS
DrAHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements gt 10 mm should be considered equivalent to congenital hydronephrosis
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux
bull All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
2-vessel cord
bull The presence of a two-vessel cord can be a marker for aneuploidy
bull This is not typically searched for in the first trimester but this finding can be recognized in a 10 weeks fetus
bull One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance bull Association with structural anomalies An isolated single umbilical artery has been
associated with cardiac renal abnormalities and fetal growth restriction (FGR)
bull 02 to 1 percent of pregnancies present with a two vessel cord
bull Among these about 1 to 10 percent have an aneuploidy including trisomy 18 13 triploidy and monosomy X
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Color Doppler and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
SINGLE UMBILICAL ARTERY
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
|
Single umbilical artery
LegendSingle umbilical artery DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
short fetal ear length
bull Although short fetal ear length may be a marker for fetal aneuploidy adequate evaluation has not been undertaken to establish its usefulness as either a screening tool or as part of a panel of markers for tertiary centres
The use of fetal ear length remains related to research protocols
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
FLAT EAR
Slightly protruding ear
Markedly protruding and curved ear
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Ear length (mm) = 0968566 acute gestational age (weeks) ETH 481629
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Strawberry skull
bull Transverse scan
bull Flattening of occiput with a pointed appearance to the frontal bones
bull 45 incidence in Trisomy 18
bull ( Skeletal dysplasia Normal variant)
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Current Concepts ndash Fetal Nasal Bone
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Small nasal bone in Down
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nasal Bone
bull Absent or Small nasal bone indicative of Downs syndrome
( Harvard Medical School)
bull 15-22 wks Hypoplasia ndash 70 Downs
( Nicolaides ) 1 normal
Nasal hypoplasia has not been associated with other aneuploidy
Absence or nasal bone hypoplasia has not been found to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Central cleft palate amp lip
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Double pubble
30-40 risk of aneuploidy ( trisomy 13amp 18)
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
clinodactyly
bull 1 Imaging of the outstretched hand to evaluate for fifth finger clinodactyly
is not an expectation during the 16- to 20 week ultrasound (III-C)
bull 2 Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation
(III-B)
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Increased iliac angle
bull Increased iliac angle is a possible marker for trisomy 21
bull however measurement techniques do not make it amenable to a screening exam and it has not been evaluated to be effective in a low-risk population
bull This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
sandal gap
bull No further investigations or follow-up are necessary if isolated sandal gap is detected
bull It is not part of the screening ultrasound
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Tight amnion
bull When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra-amniotic coelom
bull and the amniotic cavity is tightly wrapped around the fetus
Those fetuses are often at risk of trisomy 16 or triploidy
The amnion is very tightly apposed around this embryo The embryo later miscarried and was identified as a trisomy 16
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Yolk sac anomalies
Several papers demonstrate that
ndash An irregular yolk sac
ndash Too large yolk sacs
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Major structural anomalies
bull The presence of certain major anomalies should also prompt a karyotype
bull at nine and ten weeks ndash One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had trisomy 18
ndash The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13
ndash Last had alobar holoprosencephaly also within trisomy 18
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Omphalocele at 9 weeks Trisomy 18
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Omphalocele
Cystic Hygroma
Warrants Karyotyping
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Megacystis
Posterior urethral valves in trisomy 13
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Shapeless embryo
A shapeless embryo is an embryo with no distinctive
head and body at a time when these findings should
be recognized
bull This can be a sign of various trisomies usually very
lethal trisomies such as trisomy 8 16 and triploidy
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Wide iliac crest
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2 17
Holoprosencephaly 4 39
Choroid Plexus cysts lt1 48
Posterior fossa cyst 0 52
Facial Cleft 0 51
Micrognathia - 62
Cystic Hygroma 52 71
Nuchal oedema 19 45
Diphragmatic hernia 2 49
Heart Defects 16 66
Duodenal atresia 38 64
Exomphalos 8 46
Talipes 0 33
Growth Retardation 4 38 DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Second Trimester Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac focus
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Problems with Second Trimester Ultrasound
bull Poor specificity
bull Subjective
bull Technical limitations
bull Variability of gestational age
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Trisomy 21 Downrsquos Syndrome
bull Increased Nuchal Translucency
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
First trimester scanning
Nuchal translucency
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Increased Nuchal Thickness
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates
bull 3mm ------ 3 times
bull 4mm ------ 18 times
bull 5mm ------ 28 times
bull 6mm ------ 36 times
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Increased nuchal skin fold behind the fetal neck The increased thickness of the skin can also be seen on the side of the head The nuchal skin fold is abnormal if it measures more than 5 or 6 mm depending upon the study that is cited
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nasal Bone Screening ldquoAbsentrdquo Nasal Bone
Usefulness controversial
Correct technique
Significance of ethnicity
Absent NB seen in 28 Caucasians 68 Asians 104 Afro-Carribeans
Optimal population (HR vs LR)
Optimal gestational age
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nasal bone present
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nasal bone absent
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Normal nasal bone
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Short or absent nasal bone Fetuses with Down syndrome may have a shorter or absent nasal bone
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Fetal Nose Bone Length
bull Sagittal profile of a 20-week euploid fetus with a normal nasal bone
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow)
bull B Sagittal profile of a 16-week fetus with an absent nasal bone
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Dilated Ventricles of the brain When the ventricles measure 10 mm or greater this is abnormal
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Dilated Posterior Fossa of the brain
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Dilated cavum septi pellucidi (714mm) and bilateral choroid plexus cysts (arrow
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Atrial andor ventricular chamber disproportion When this is present the right atrium andor ventricle is larger than the left atrium andor ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Ventricular and atrial septal defects This is a hole in the wall that separates the two ventricular and atrial chambers This is also known as an endocardial cushion defect or an AV canal defect When this is present the risk for Down syndrome is 50
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Pericardial Effusion This is a collection of fluid along the side of the heart In fetuses with Down syndrome this is usually located along the right ventricle of the heart
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Echogenic focus This is a white dot that appears in the left ventricle occasionally in the right ventricle and rarely in both ventricles There is debate as to whether it increases the risk for Down syndrome when observed in isolation In a recent study Dr DeVore found that an isolaed echognic focus increaes the risk for Down syndrome 19 times
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Atrioventricular canalNote the absence of the crux cordis (star) RA right atrium LA left atrium RV right ventricle LV left ventricle
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Hyperechoic bowel This occurs when the bowel appears to be brighter than the surrounding tissue Besides Down syndrome it has been associated with an increased risk for cystic fibrosis cytomegalovirus infection parvovirus infection and growth restriction that occurs later in pregnancy
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Pyelectasis This is a dilated kidney that measures 4 or more millimeters in diameter This often resolves as the pregnancy continues Rarely it develops into hydronephrosis that must be treated following birth DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Measurements for Down Syndrome
bull GA (weeks) --- BPDFL ratio bull 15 --------------------- 193 bull 16 --------------------- 193 bull 17 --------------------- 176 bull 18 --------------------- 174 bull 19 --------------------- 169 bull 20 --------------------- 158 bull 21 --------------------- 154 bull 22 --------------------- 147
The mean +15 SD is usually used as the cutoff level
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Trisomy 18
bull 2nd most common chromosomal abnmlty
bull 1 3000 births
bull US identified abnormalities ndash Congenital Heart Dz
ndash CDH
ndash Omphalocele
ndash NTDefects
ndash Dandy-Walker
ndash Clenched Hands
ndash Single Umbilical Artery
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Markers for Trisomy 18
Clindactyly Micrognathia
Talipes Strawberry skull
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Close to 90 detected by prenatal scan
bull US
ndash Growth restriction
ndash Clenched fists
ndash gt90 with cardiac defects
ndash Multiple malformations
bull Grim prognosis
ndash 50 Stillbirth
ndash 50 die within the first week
ndash 5-10 survive the first year
Trisomy 18
Edward Syndrome
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
TRISOMY 18
bull 13000 Lethal
bull Edwards 1960
bull Fixed flexion and overlapping of fingers- hallmark of this syndrome
bull Micrognathia in 70 in sagittal section
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Trisomy 18
bull Also called Edwards Syndrome
bull There are three 18th chromosomes instead of two
bull Multiple major anomalies are seen
bull Occurs in approximately 12500 pregnancies
bull 50 carried to term will be stillborn
bull Of those that survive only 10 survive to their first birthday
bull Not genetic ndash typically occur sporadically
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
bull Clenched Hands
bull Choroid plexus cysts
bull ldquoStrawberryrdquo shaped head
bull Intrauterine growth restriction
bull Cardiac defects
bull Micrognathia
bull Low set ears
Ultrasound Findings
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Trisomy 13
Patau Syndrome
bull gt 90 detected prenatally
bull US findings
ndash Midline defects including clefts holoprosencephaly and NTDs
ndash gt90 have cardiac defects
ndash Multiple structural abnormalities
bull Grim prognosis
ndash High rate of miscarriage
ndash 80-85 die within first month
ndash 80-85 die within first year
1 5000 LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90 of fetuses
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Absence of any markers conveys 70 reduction in Down Syndrome
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Prenatal diagnosis for Joubert syndrome
Challenges and Possibilities
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Normal Fetal Hand 3D US
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Polydactyly 3D US
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Normal Face 2D and 3D US
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Non-invasive testing Imaging
Prenatal Hydrocephalus on US
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Imaging Post-natal correlation
Hydrocephalus on MRI after birth
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Molar Tooth Sign
deep interpeduncular fossa
thick elongated SCPs
cerebellar vermis hypoplasia
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Cerebellar vermis in utero
Normal Hypoplastic Normal
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
JS in utero absence of cerebellar vermis
Ultrasound MRI DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
JS enlarged cisterna magna
Ultrasound MRI DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
JS in utero polydactyly
1 2 3
4
5
6
Aslan et al 2002 DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
JS in utero encephalocele
Wang et al 1999 DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
Summary of the most common ultrasound findings of aneuploidy during the second trimester
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
refferences
Ian A Glass MB ChB MD FACMG Associate Professor of Pediatrics and Medicine
Periodic health examination 1992 update 2 Routine prenatal ultrasound
bull screening Canadian Task Force on the Periodic Health Examination Can
bull Med J 1992147(5)627ndash33
Society of Obstetricians and Gynaecologists of Canada Guidelines for the
bull performance of ultrasound examination in obstetrics and gynaecology J
bull Soc Obstet Gynaecol Can 199517263ndash6
Society of Obstetricians and Gynaecologists of Canada Guidelines for
bull health care providers involved in prenatal screening and diagnosis SOGC
bull Clinical Practice Guidelines No 75 August 1998
DrAHMED ESAWY
