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1-fetal genetic ultrasound Dr Ahmed Esawy

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Ultrasound Markers
soft ultrasound markers
Minor markers
Nuchal fold
Echogenic bowel
Ventriculomegaly
Echogenic cardiac focus
Choroid plexus cyst
Single umbilical artery
Enlarged cisterna magna
Renal pyelectasis
Trisomy 21: Down’s Syndrome
Trisomy 18 Edward Syndrome
Trisomy 13
Molar Tooth Sign

Fetal Echocardiography
1st Step: Check the heart is beating
2nd Step: M-mode heart rate - should be between 120 and 180 beats per minute
3rd step : Situs-
4th step four chamber view.
5th and 6th Step Outflow Tracts
5th step : LVOT
6TH step : RVOT
7th step : 3 Vessel View
8th step: Interventricular Septum
IVS (a false positive for septal defect).
It should be assessed in both B-mode and Colour Doppler.
9th step : Aortic Arch
The 'arches' are best assessed when the foetus is prone.
10th step : Ductal Arch
This is the ductus arteriosus:
Fetal bradycardia
• Fetal sinus bradycardia
• Fetal bradyarrythmias
Fetal Tachyarrhythmia
Fetal premature atrial contraction (PAC)
Fetal Complete Atrioventricular block
Supraventricular tachycardia
Communications between systemic and pulm. Circuits  LT RT. shunt.
• Inter-atrial communications. Patent F. oval , ost. 1 defect, sinus venosus, ost.2 defect, endocarial cushin defect.
• Inter-ventricular communications.
-simple VSD.
-VSD with AI
-Single ventricle
-Gerbode defect
-Endocar. Cushion
• Aorto-pulmonary communications:
a. Persistent ductus arteriosus (P.D.A.)
b. Aorto-pulmonary window.
c. Truncus arteriosus.
d. Ruptured sinus of valsalva.
e. Coronary arterio-venous fistula.
Ventricular Septal Defect (VSD)
Endocardial Cushion Defect
Complete atrioventricular canal
Truncus arteriosus
ductus Arteriosus
Valvular and Obstructive lesions
Coarctation of aorta
Vascular rings
Aortic stenosis.
AI, MS, hypopalstic heart.
Cotriatrium
Fallot (F5,F4, F3.)
Pulmonary. Atresia
PULMONARY STENOSIS
Ebestien anomaly
Transposition of great vessels
Tetralogy of fallot
Double outlet right ventricle
Pulmonary atresia with a VSD
Common arterial trunk
Absent pulmonary valve syndrome
Tricuspid atresia
Tricuspid dysplasia
Tetralogy of Fallot

Publicada em: Saúde e medicina
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1-fetal genetic ultrasound Dr Ahmed Esawy

  1. 1. Dr/AHMED ESAWY
  2. 2. Dr. Ahmed Esawy MBBS M.Sc MD Dr/AHMED ESAWY
  3. 3. Dr/AHMED ESAWY
  4. 4. Dr/AHMED ESAWY
  5. 5. Dr/AHMED ESAWY
  6. 6. Dr/AHMED ESAWY
  7. 7. Dr/AHMED ESAWY
  8. 8. Dr/AHMED ESAWY
  9. 9. Dr/AHMED ESAWY
  10. 10. Ultrasound Markers • Major ( Hard ) markers (structural abnormalities) Karyotype even if isolated • Minor ( Soft ) markers Karyotype if associated with other findings Dr/AHMED ESAWY
  11. 11. Dr/AHMED ESAWY Organ System Major( Hard ) Minor/Soft Markers CNS Ventriculomegaly Choroid plexus cyst Holoprosencephaly Microcephaly (biparietal diameter (BPD) < 1st percentile and HP/FL < 2.5th percentile) Dysgenesis of corpus callosum Abnormal posterior fossa- dandy walker complex Musculoskeletal Hand and feet anomalies– 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 – Major and Soft Markers of Aneuploidy
  12. 12. Dr/AHMED 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 ) Minor/Soft Markers
  13. 13. Definition of soft ultrasound markers • Soft markers are minor ultrasound abnormalities, considered variants of normal, which do not constitute a • structural defect. • They may be associated with chromosomal or none chromosomal abnormalities. Soft markers include: • Those associated with increased risk of aneuploidy and in some cases none chromosomal problems • Nuchal translucency (NT) • Nasal bone hypoplasia • Nuchal pad edema • Echogenic bowel • Echogenic focus in the heart (golf ball sign) • Choroid plexus cysts • Mild ventriculomegaly Dr/AHMED ESAWY
  14. 14. Those associated with an increased risk of non- chromosomal 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 Dr/AHMED ESAWY
  15. 15. Minor markers: • Wide iliac crest angle >90 degree • Brachycephaly • Frontal lobe shortening • Abnormal short ear length • Flat face • Clinodactaly • Hypo-plasia of middle phalanx of the 5th digit • Sandal gap of great toe • Simian crease • Small cerebellar diameter Dr/AHMED ESAWY
  16. 16. Final remarks: • Detection by ultrasound depend on personal experience • Proper timing of scan Dr/AHMED ESAWY
  17. 17. Disadvantages of soft markers • 1- The exact significance of ultrasound soft markers is still uncertain. • 2- It is operator dependent and therefore may be missed. • 3- The detection of soft ultrasound markers requires training and high- resolution ultrasound equipment. • 4- The counseling, training and expertise required is currently difficult to • achieve. • 5- Some soft markers are transient and the significance is uncertain. • 6- With better equipment, more markers may become more evident which may cause more concern to the prospective parents. • 7- Unless caution is exercised and it is combined with other markers for abnormalities, it may lead to unnecessary interventions.Dr/AHMED ESAWY
  18. 18. A. Screening scan (16-20 weeks) • Nuchal fold • Echogenic bowel • Ventriculomegaly • Echogenic cardiac focus • Choroid plexus cyst • Single umbilical artery • Enlarged cisterna magna • Renal pyelectasis Dr/AHMED ESAWY
  19. 19. Dr/AHMED 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
  20. 20. Nuchal translucency (NT) • measured between 11 – 14 weeks of pregnancy. • It is a soft marker screening for • Chromosomal abnormalities (trisomy 18 and 21), • thoracic compression (diaphragmatic hernia) • Cardiac abnormalities. DD • cystic hygroma • Nuchal pad thickness Dr/AHMED ESAWY
  21. 21. N.T. measure from one white line to the other Dr/AHMED ESAWY
  22. 22. NT Dr/AHMED ESAWY
  23. 23. N.T. Dr/AHMED ESAWY
  24. 24. Nuchal Pad thickness/fold • It is the skin thickness in the posterior aspect of the fetal neck. It should be measured between 15 – 20 weeks of gestation • This is the second-trimester form of nuchal translucency • It is found in about 0.5% of fetuses and it may be of no pathological significance. • sometimes associated with • chromosomal defects, • cardiac anomalies, • infection • genetic syndromes • isolated nuchal edema, the risk for trisomy 21 may be 15 times the background178 Dr/AHMED ESAWY
  25. 25. Nuchal fold Dr/AHMED ESAWY
  26. 26. Nuchal Fold •6mm or more significant • Full structural survey – a must • Sensitivity for Downs - 43% (Benacerraf) • Warrants Karyotyping even if isolated Dr/AHMED ESAWY
  27. 27. Nuchal edema or fold of more than 6mm . Dr/AHMED ESAWY
  28. 28. THICKENED NUCHAL FOLD Dr/AHMED ESAWY
  29. 29. Increased NT Nuchal Pad thickness (6mm or over) Dr/AHMED ESAWY
  30. 30. Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal translucency. Chorionic villus sampling revealed trisomy 18. Dr/AHMED ESAWY
  31. 31. fetus after termination of pregnancy, demonstrating loose edematous skin over the neck, accounting for the nuchal translucency on ultrasound scanning. Dr/AHMED ESAWY
  32. 32. Dr/AHMED ESAWY
  33. 33. Echogenic fetal bowel • Bowel as echogenic as bone • commonest cause is intra-amniotic bleeding • Associated with • Placental failure Trisomy 21, Infection (CMV), Cystic fibroisis Dr/AHMED ESAWY
  34. 34. Hyperechogenic bowel This is found in about 0.5% 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 Dr/AHMED ESAWY
  35. 35. ECHOGENIC BOWEL Dr/AHMED ESAWY
  36. 36. Association with aneuploidy • There is a high risk for association with trisomy 13, 18 and 21. . Association with structural abnormalities • Echogenic bowel has been associated with an increased risk for: • Cystic fibrosis • Congenital infection (cytomegalovirus [CMV], herpes, parvovirus, rubella, varicella, and toxoplasmosis) • Intra-amniotic bleeding • Congenital malformations of the bowel • Perinatal complications, including intrauterine growth restriction Dr/AHMED ESAWY
  37. 37. Choroid plexus cysts • sonographically discrete fluid filled small cysts (< 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. Dr/AHMED ESAWY
  38. 38. • Isolated CP cysts 0.7 - 3.6 % of normal fetuses no pathological significance • isolated CP cyst with no other abnormality calls for no intervention • 2.3 % risk of chromosomal abnormality • They are more associated with trisomy 18 (Edwards syndrome) than trisomy 21. • In chromosomally normal babies, associations with structural abnormalities Dr/AHMED ESAWY
  39. 39. Choroid plexus cysts Dr/AHMED ESAWY
  40. 40. Choroid Plexus Cysts • Unilateral or bilateral • Single or multiple • 3-10 mm • Regress by 24 weeks Dr/AHMED ESAWY
  41. 41. Choroid plexus cyst Dr/AHMED ESAWY
  42. 42. Warrants Karyotyping Holoprosencephaly Dr/AHMED ESAWY
  43. 43. : Alobar holoprosencephaly at 10 weeks. Trisomy 18. Dr/AHMED ESAWY
  44. 44. Enlarged Cisterna Magna • If the cisterna magna is subjectively increased, a measurement should be taken • 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 Dr/AHMED ESAWY
  45. 45. ENLARGED CISTERNA MAGNA Dr/AHMED ESAWY
  46. 46. 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 & Triploidy Dr/AHMED ESAWY
  47. 47. MILD VENTRICULOMEGALY < 10 > 15 mm Dr/AHMED ESAWY
  48. 48. Dr/AHMED ESAWY Ventriculomegaly LV > 11mm
  49. 49. Major Ventriculomegaly Dr/AHMED ESAWY
  50. 50. Echogenic Cardiac Focus • Located in the chordae tendinae, not attached to ventricular walls • Moves with AV valves • 90% in LV, single or multiple • 95% resolve spontaneously •In high risk group 5 fold increase for Downs Search for other markers – If isolated no action Best visualised in 4 CH view Echogenic foci should be considered as a normal variant Dr/AHMED ESAWY
  51. 51. Echogenic intracardiac focus in the left ventricle of the heart Dr/AHMED 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.
  52. 52. Short long bones (femur and humerus) • Definition Short femur and humerus length is defined as a measurement less than the third centile for the gestational age. • Isolated short femur or humerus length is associated with aneuploidy and should be referred for tertiary level evaluation. • Short long bones may be associated with general skeletal malformation or FGR. Ultrasound screening for other • long bones and serial growth measurements should be undertaken Dr/AHMED ESAWY
  53. 53. 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 Dr/AHMED ESAWY
  54. 54. 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 Dr/AHMED ESAWY
  55. 55. Simian crease Dr/AHMED ESAWY
  56. 56. Pelviectasis • Renal pelvis 5-10 mm with no calyceal involvement • Unilateral or Bilateral • Scan for other markers If in isolation no further action May indicate obstructive pathology – follow up scans Predictive values range from 1:33 to 1: 340Dr/AHMED ESAWY
  57. 57. • MILD PYELECTASIS Dr/AHMED ESAWY as the risk of Down syndrome remains small Renal pelvis measurements > 10 mm should be considered equivalent to congenital hydronephrosis
  58. 58. • Fetal pyelectasis is associated with congenital hydronephrosis or vesico-ureteric reflux • All fetuses with renal pelvic measurements 5 mm should have a neonatal ultrasound and pediatric follow up. Dr/AHMED ESAWY
  59. 59. 2-vessel cord • The presence of a two-vessel cord can be a marker for aneuploidy. • This is not typically searched for in the first trimester., but this finding can be recognized in a 10 weeks fetus. • One would look for a 2-vessel cord if the fetus has other findings such as a thick nuchal lucency for instance. • Association with structural anomalies :An isolated single umbilical artery has been associated with cardiac, renal abnormalities and fetal growth restriction (FGR). • 0.2 to 1 percent of pregnancies present with a two vessel cord. • Among these, about 1 to 10 percent have an aneuploidy, including trisomy 18, 13, triploidy and monosomy X. Dr/AHMED ESAWY
  60. 60. Color Doppler, and energy Doppler demonstrate a 2 vessel cord in a 10 week fetus. Dr/AHMED ESAWY
  61. 61. SINGLE UMBILICAL ARTERY Dr/AHMED ESAWY
  62. 62. | Single umbilical artery Legend:Single umbilical artery Dr/AHMED ESAWY
  63. 63. short fetal ear length • 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 Dr/AHMED ESAWY
  64. 64. FLAT EAR Slightly protruding ear Markedly protruding and curved ear Dr/AHMED ESAWY
  65. 65. • Ear length (mm) = 0.968566 ´ gestational age (weeks) Ð 4.81629 Dr/AHMED ESAWY
  66. 66. Strawberry skull • Transverse scan • Flattening of occiput with a pointed appearance to the frontal bones • 45% incidence in Trisomy 18 • (? Skeletal dysplasia/? Normal variant) Dr/AHMED ESAWY
  67. 67. Duodenal atresia Major Cardiac defects Warrants Karyotyping Dr/AHMED ESAWY
  68. 68. Current Concepts – Fetal Nasal Bone Dr/AHMED ESAWY
  69. 69. Nasal bone present Dr/AHMED ESAWY
  70. 70. Nasal bone absent Dr/AHMED ESAWY
  71. 71. Small nasal bone in Down Dr/AHMED ESAWY
  72. 72. Nasal Bone • Absent or Small nasal bone indicative of Downs syndrome ( Harvard Medical School) • 15-22 wks Hypoplasia – 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 Dr/AHMED ESAWY
  73. 73. Central cleft palate & lip Dr/AHMED ESAWY
  74. 74. Double pubble 30-40% risk of aneuploidy ( trisomy 13& 18) Dr/AHMED ESAWY
  75. 75. clinodactyly • 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). • 2. Fifth finger clinodactyly is associated with trisomy 21 and should be considered for research or tertiary-level evaluation (III-B). Dr/AHMED ESAWY
  76. 76. Increased iliac angle • Increased iliac angle is a possible marker for trisomy 21; • 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. • This marker may be useful for tertiary centres investigating high-risk patients or as a possible negative predictor Dr/AHMED ESAWY
  77. 77. sandal gap • No further investigations or follow-up are necessary if isolated sandal gap is detected. • It is not part of the screening ultrasound Dr/AHMED ESAWY
  78. 78. Tight amnion • When the amnion is too close to the fetus in which the gestational sac is predominantly occupied by the extra- amniotic coelom, • 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 Dr/AHMED ESAWY
  79. 79. Yolk sac anomalies Several papers demonstrate that : – An irregular yolk sac. – Too large yolk sacs. are factors that are predictors of pregnancies that will end up as miscarriage in the first trimester Dr/AHMED ESAWY
  80. 80. Major structural anomalies • The presence of certain major anomalies should also prompt a karyotype. • at nine and ten weeks. – One appeared to have an omphalocele (greater than the normal physiological herniation of the guts ) and had trisomy 18. – The other one had a large obstructed bladder and a small omphalocele and indeed had trisomy 13. – Last had alobar holoprosencephaly also within trisomy 18. Dr/AHMED ESAWY
  81. 81. Omphalocele at 9 weeks. Trisomy 18 Dr/AHMED ESAWY
  82. 82. Omphalocele Cystic Hygroma Warrants Karyotyping Dr/AHMED ESAWY
  83. 83. Megacystis Posterior urethral valves in trisomy 13 Dr/AHMED ESAWY
  84. 84. Shapeless embryo A shapeless embryo: is an embryo with no distinctive head and body at a time when these findings should be recognized. • This can be a sign of various trisomies, usually very lethal trisomies such as trisomy 8, 16, and triploidy. Dr/AHMED ESAWY
  85. 85. Wide iliac crest Dr/AHMED ESAWY
  86. 86. Prevalence of fetal chromosomal defects in fetuses with isolated and multiple abnormalities Ventriculomegaly 2% 17% Holoprosencephaly 4% 39% Choroid Plexus cysts <1% 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% Dr/AHMED ESAWY
  87. 87. Trisomy 21: Down’s Syndrome Dr/AHMED ESAWY
  88. 88. 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 Dr/AHMED ESAWY
  89. 89. Nuchal Fold CPC Duodenal atresia Pyelectasis Clinodactyly Second trimester sonographic markers of Down syndrome AV Canal Dr/AHMED ESAWY
  90. 90. Dr/AHMED ESAWY
  91. 91. Problems with Second Trimester Ultrasound • Poor specificity • Subjective • Technical limitations • Variability of gestational age Dr/AHMED ESAWY
  92. 92. Trisomy 21: Down’s Syndrome • Increased Nuchal Translucency Dr/AHMED ESAWY
  93. 93. First trimester scanning Nuchal translucency Dr/AHMED ESAWY
  94. 94. Dr/AHMED ESAWY
  95. 95. Increased Nuchal Thickness Dr/AHMED ESAWY
  96. 96. at 10-13 weeks with nuchal fold greater than 3mm arrived at the following risks estimates: • 3mm ------ 3 times • 4mm ------ 18 times • 5mm ------ 28 times • 6mm ------ 36 times Dr/AHMED ESAWY
  97. 97. 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 Dr/AHMED ESAWY
  98. 98. Nasal Bone Screening “Absent” Nasal Bone  Usefulness controversial  Correct technique  Significance of ethnicity Absent NB seen in 2.8% Caucasians, 6.8% Asians, 10.4% Afro-Carribeans  Optimal population (HR vs. LR)  Optimal gestational age Dr/AHMED ESAWY
  99. 99. Nasal bone present Dr/AHMED ESAWY
  100. 100. Nasal bone absent Dr/AHMED ESAWY
  101. 101. Dr/AHMED ESAWY
  102. 102. Dr/AHMED ESAWY
  103. 103. Normal nasal bone Dr/AHMED ESAWY
  104. 104. Dr/AHMED ESAWY
  105. 105. Dr/AHMED ESAWY
  106. 106. Dr/AHMED ESAWY
  107. 107. Dr/AHMED ESAWY
  108. 108. Dr/AHMED ESAWY
  109. 109. Dr/AHMED ESAWY
  110. 110. Short or absent nasal bone. Fetuses with Down syndrome may have a shorter or absent nasal bone Dr/AHMED ESAWY
  111. 111. Fetal Nose Bone Length • Sagittal profile of a 20-week euploid fetus with a normal nasal bone Dr/AHMED ESAWY
  112. 112. • Sagittal profile of a 19-week fetus with Down syndrome showing a small nasal bone (arrow). • B, Sagittal profile of a 16-week fetus with an absent nasal bone. Dr/AHMED ESAWY
  113. 113. Dilated Ventricles of the brain. When the ventricles measure 10 mm or greater, this is abnormal Dr/AHMED ESAWY
  114. 114. Dr/AHMED ESAWY
  115. 115. Dilated Posterior Fossa of the brain Dr/AHMED ESAWY
  116. 116. • Dilated cavum septi pellucidi (7.14mm) and bilateral choroid plexus cysts (arrow Dr/AHMED ESAWY
  117. 117. Atrial and/or ventricular chamber disproportion. When this is present, the right atrium and/or ventricle is larger than the left atrium and/or ventricle Dr/AHMED ESAWY
  118. 118. Dr/AHMED ESAWY
  119. 119. 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%. Dr/AHMED ESAWY
  120. 120. 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. Dr/AHMED ESAWY
  121. 121. 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 1.9 times Dr/AHMED ESAWY
  122. 122. Dr/AHMED ESAWY
  123. 123. • Atrioventricular canal.Note the absence of the crux cordis (star). RA: right atrium, LA: left atrium, RV: right ventricle, LV: left ventricle. Dr/AHMED ESAWY
  124. 124. Dr/AHMED ESAWY
  125. 125. 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 Dr/AHMED ESAWY
  126. 126. Dr/AHMED ESAWY
  127. 127. 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 Dr/AHMED ESAWY
  128. 128. Dr/AHMED ESAWY
  129. 129. Measurements for Down Syndrome • GA (weeks) --- BPD/FL ratio# • 15 --------------------- 1.93 • 16 --------------------- 1.93 • 17 --------------------- 1.76 • 18 --------------------- 1.74 • 19 --------------------- 1.69 • 20 --------------------- 1.58 • 21 --------------------- 1.54 • 22 --------------------- 1.47 The mean +1.5 SD is usually used as the cutoff level. Dr/AHMED ESAWY
  130. 130. Nuchal Fold CPC Duodenal atresia Pyelectasis Clinodactyly Second trimester sonographic markers of Down syndrome AV Canal Dr/AHMED ESAWY
  131. 131. Dr/AHMED ESAWY
  132. 132. Dr/AHMED ESAWY
  133. 133. Trisomy 18: • 2nd most common chromosomal abnmlty • 1 : 3000 births • US identified abnormalities: – Congenital Heart Dz – CDH – Omphalocele – NTDefects – Dandy-Walker – Clenched Hands – Single Umbilical Artery Dr/AHMED ESAWY
  134. 134. Markers for Trisomy 18 Clindactyly Micrognathia Talipes Strawberry skull Dr/AHMED ESAWY
  135. 135. • Close to 90% detected by prenatal scan • US: – Growth restriction – Clenched fists – >90% with cardiac defects – Multiple malformations • Grim prognosis – 50% Stillbirth – 50% die within the first week – 5-10% survive the first year Trisomy 18 Edward Syndrome Dr/AHMED ESAWY
  136. 136. TRISOMY 18 • 1:3000, Lethal • Edwards 1960 • Fixed flexion and overlapping of fingers- hallmark of this syndrome • Micrognathia in 70% in sagittal section. Dr/AHMED ESAWY
  137. 137. Trisomy 18 • Also called Edwards Syndrome • There are three 18th chromosomes instead of two • Multiple major anomalies are seen • Occurs in approximately 1:2500 pregnancies • 50% carried to term will be stillborn • Of those that survive, only 10% survive to their first birthday • Not genetic – typically occur sporadically Dr/AHMED ESAWY
  138. 138. • Clenched Hands • Choroid plexus cysts • “Strawberry” shaped head • Intrauterine growth restriction • Cardiac defects • Micrognathia • Low set ears Ultrasound Findings Dr/AHMED ESAWY
  139. 139. Dr/AHMED ESAWY
  140. 140. Dr/AHMED ESAWY
  141. 141. Dr/AHMED ESAWY
  142. 142. Dr/AHMED ESAWY
  143. 143. Trisomy 13 Patau Syndrome • > 90% detected prenatally • US findings: – Midline defects including clefts, holoprosencephaly and NTDs – >90% have cardiac defects – Multiple structural abnormalities • Grim prognosis – High rate of miscarriage – 80-85% die within first month – 80-85% die within first year 1: 5000 , LETHAL First described by Patau in 1960 Fetal growth restriction- in over 90% of fetuses Dr/AHMED ESAWY
  144. 144. Markers of Trisomy 13 Holoprosencephaly Omphalocele VSD Polydactyly Dr/AHMED ESAWY
  145. 145. Absence of any markers conveys 70% reduction in Down Syndrome Dr/AHMED ESAWY
  146. 146. Fetal Ultrasound Showing Cardiac Rhabdomyoma Fetal MRI Showing Tubers Prenatal Findings Consistent with Tuberous Sclerosis Confirmed as Neonate Dr/AHMED ESAWY
  147. 147. Prenatal diagnosis for Joubert syndrome: Challenges and Possibilities Dr/AHMED ESAWY
  148. 148. Normal Fetal Hand: 3D US Dr/AHMED ESAWY
  149. 149. Polydactyly: 3D US Dr/AHMED ESAWY
  150. 150. Normal Face: 2D and 3D US Dr/AHMED ESAWY
  151. 151. Non-invasive testing: Imaging Prenatal Hydrocephalus on US Dr/AHMED ESAWY
  152. 152. Imaging: Post-natal correlation Hydrocephalus on MRI after birthDr/AHMED ESAWY
  153. 153. Molar Tooth Sign deep interpeduncular fossa thick, elongated SCPs cerebellar vermis hypoplasia Dr/AHMED ESAWY
  154. 154. Cerebellar vermis in utero Normal HypoplasticNormal Dr/AHMED ESAWY
  155. 155. JS in utero: absence of cerebellar vermis Ultrasound MRIDr/AHMED ESAWY
  156. 156. JS: enlarged cisterna magna Ultrasound MRIDr/AHMED ESAWY
  157. 157. JS in utero: polydactyly 1 23 4 5 6 Aslan et al. 2002Dr/AHMED ESAWY
  158. 158. JS in utero: encephalocele Wang et al. 1999Dr/AHMED ESAWY
  159. 159. Summary of the most common ultrasound findings of aneuploidy during the second trimester Dr/AHMED ESAWY
  160. 160. refferences Ian A. Glass, MB ChB, MD, FACMG Associate Professor of Pediatrics and Medicine . Periodic health examination, 1992 update: 2. Routine prenatal ultrasound • screening. Canadian Task Force on the Periodic Health Examination. Can • Med J 1992;147(5):627–33. Society of Obstetricians and Gynaecologists of Canada. Guidelines for the • performance of ultrasound examination in obstetrics and gynaecology. J • Soc Obstet Gynaecol Can 1995;17:263–6. Society of Obstetricians and Gynaecologists of Canada. Guidelines for • health care providers involved in prenatal screening and diagnosis. SOGC • Clinical Practice Guidelines. No. 75; August 1998. Dr/AHMED ESAWY

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