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OBSTETRICAL ULTRASOUND CONGENITAL DISORDERS. Sonographic Markers for Chromosomal Anomalies Nuchal translucency Echogenic bowel Choroid plexus cysts Intracardiac.

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Presentation on theme: "OBSTETRICAL ULTRASOUND CONGENITAL DISORDERS. Sonographic Markers for Chromosomal Anomalies Nuchal translucency Echogenic bowel Choroid plexus cysts Intracardiac."— Presentation transcript:

1 OBSTETRICAL ULTRASOUND CONGENITAL DISORDERS

2 Sonographic Markers for Chromosomal Anomalies Nuchal translucency Echogenic bowel Choroid plexus cysts Intracardiac echogenic foci Fetal pyelectasis Nuchal fold Mild ventriculomegaly Shortened longed bones Single umbilical artery

3 Nuchal Translucency 10-14 weeks of gestation, posterior to the neck skill for accuracy of measurement > 3mm has association with chromosomal abnormality > 4 higher risk

4 Nucal Translucency Normal < 3 mm

5 DOWNS SYNDROME Trisomy 21 Physical features brachycephaly nuchal fold flattened nose- Absent Septum protruding tongue

6 Trisomy 21 Possible Sonogaphic findings nuchal translucency > 3 mm nuchal fold increased thickness > 6mm cardiac defects - AV canal Echogenic foci duodenal atresia shortened extremities clinodactyly of fifth finger

7 Increased Nucal Lucency Vs Cystic Hygroma

8 Abnormal NT Nuchal Translucency

9 Trisomy 21 Nucal fold Excess soft tissue in the posterior neck area(nucal fold) is known to be a feature of newborns with down syndrome 15-20 wks gestation Nuchal fold abnormal if increased thickness > 6mm

10 Absent Nasal Bones Normal Nasal Bones

11 DILATED VENTRICLES

12 Echogenic Bowel Meconium Peritionitis

13 Choroid Plexus Cyst Round or oval anechoic structure found in the choroid plexus contains cerebral spinal fluid can be unilateral or bilateral range in size from 0.3 mm - 2cm usually resolve by 22-26 weeks considered incidental but can be associated with trisomies 18 and 21

14 Choroid Plexus Cyst

15 Echogenic Foci Fetal Heart

16 Trisomy 18 Edwards syndrome Trisomy E or Trisomy 16/18 MSS markers are all decreased Extra Chromosome # 18 poor prognosis Micronathia - small chin low set ears cerebral anomalies Microcephaly strqwberry shaped skull clenched hands

17 Micronathia

18 Clenched Hands Trisomy 18

19 Trisomy 13 Sonographic Findings IUGR Polyhydraminos Congenital heart disease Midline defects Cranial malformations Extremity anomalies Renal malformations Omphalocele

20 Cleft Lip

21 Fetal Kidneys Fetal pyelectasis-Mild

22 Single Umbilical Artery


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