Membrane-covered midline abdominal wall defect with herniation of abdominal contents into base of cord

Liver + small bowel is most common type (large defects)

Bowel-only type is smaller and more likely missed

Omphalocele membrane is peritoneum + amnion

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  Mostly thin membrane but can also be cystic

Umbilical cord inserts onto membrane (not always central)

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  Color Doppler best to show cord insertion site

Ascites is common

Membrane rupture is complication

Normal physiologic bowel herniation

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  Bowel returns by 12 weeks

Gastroschisis

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  Defect to right of normal cord insertion

25-30% with associated anomalies

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  Cardiac defects common

Chromosomal abnormalities in 30-40%

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  Bowel-only omphalocele with highest risk

Syndromes associated with omphalocele

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  Beckwith-Wiedemann syndrome: Big tongue, macrosomia, large &/or horseshoe kidneys

  
  
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  Pentalogy of Cantrell: Part of heart in omphalocele sac

  
  
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  OEIS complex: O mphalocele, bladder e xtrophy, i mperforate anus, s pine anomaly

Survival as high as 80-90% if normal chromosomes, no syndromes, and no other significant anomalies

Evaluate abdominal wall cord insertion site at time of nuchal translucency screening

Consider sac rupture if ascites suddenly resolves

Consider formal echocardiogram in all cases