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1-FETAL GENETIC ULTRASOUND Dr Ahmed Esawy

ADVANCED FETAL ULTRASOUND

AhmedEsawy
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1-FETAL GENETIC ULTRASOUND Dr Ahmed Esawy

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  1. Dr/AHMED ESAWY

  2. Dr. Ahmed Esawy MBBS M.Sc MD Dr/AHMED ESAWY

  3. Dr/AHMED ESAWY

  4. Dr/AHMED ESAWY

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  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. Major and Soft Markers of Aneuploidy Major( Hard ) Organ System 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 Hand and feet anomalies– syndactyly, clinodactyly, clenched fist, radial ray aplasia, clubfoot and rocker-bottom foot Cleft palate and lips, micrognathia, macroglossia, hypo- and hypertelorism, low set ears, small ear Musculoskeletal Short long bones Face – Dr/AHMED ESAWY

  12. Major( Hard ) Organ System Minor/Soft Markers Nuchal fold thickening Neck Cystic hygroma Endocardial cushion defect, ventricular septal defect, hypoplastic left heart syndrome, tetralogy of Fallot, and other complex cardiac anomalies Echogenic focus within heart Cardiac Esophageal and duodenal atresia, small bowel obstruction, diaphragmatic hernia and omphalocele Gastrointestinal tract Echogenic bowel Moderate to severe hydronephrosis, dysplastic renal disease, and renal agenesis Genitourinary tract Mild pyelectasis Intrauterine growth retardation in second trimester, hydrops Two-vessel cord, single umbilical Others Dr/AHMED ESAWY

  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. 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. 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. Final remarks: • Detection by ultrasound depend on personal experience • Proper timing of scan Dr/AHMED ESAWY

  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. 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. NUCHAL TRANSLUCENCY NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY It is the maximum thickness of the subcutaneous translucency between the skin and the soft tissue overlying the cervical spine Dr/AHMED ESAWY

  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. N.T. measure from one white line to the other Dr/AHMED ESAWY

  22. NT Dr/AHMED ESAWY

  23. N.T. Dr/AHMED ESAWY

  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. Nuchal fold Dr/AHMED ESAWY

  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. Nuchal edema or fold of more than 6mm . Dr/AHMED ESAWY

  28. THICKENED NUCHAL FOLD Dr/AHMED ESAWY

  29. Increased NT Nuchal Pad thickness (6mm or over) Dr/AHMED ESAWY

  30. Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal translucency. Chorionic villus sampling revealed trisomy 18. Dr/AHMED ESAWY

  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. Dr/AHMED ESAWY

  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. 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. ECHOGENIC BOWEL Dr/AHMED ESAWY

  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. 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. 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. Choroid plexus cysts Dr/AHMED ESAWY

  40. Choroid Plexus Cysts •Unilateral or bilateral • Single or multiple • 3-10 mm • Regress by 24 weeks Dr/AHMED ESAWY

  41. Choroid plexus cyst Dr/AHMED ESAWY

  42. Holoprosencephaly Warrants Karyotyping Dr/AHMED ESAWY

  43. : Alobar holoprosencephaly at 10 weeks. Trisomy 18. Dr/AHMED ESAWY

  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. ENLARGED CISTERNA MAGNA Dr/AHMED ESAWY

  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. MILD VENTRICULOMEGALY < 10 > 15 mm Dr/AHMED ESAWY

  48. Ventriculomegaly LV > 11mm Dr/AHMED ESAWY

  49. Major Ventriculomegaly Dr/AHMED ESAWY

  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 Best visualised in 4 CH view Search for other markers – If isolated no action Echogenic foci should be considered as a normal variant Dr/AHMED ESAWY

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