Omphalocele

Omphalocele refers to a congenital defect of the abdominal wall in which the bowel and solid viscera are covered by peritoneum and amniotic membrane. The umbilical cord inserts into the sac. The overall incidence is approximately 1 in 5000 live births, with 1 in 10,000 that are giant omphaloceles.

Omphalocele occurs in association with special syndromes such as:

• Exstrophy of the cloaca (vesicointestinal fissure)
• The Beckwith-Wiedemann constellation of anomalies (macroglossia, macrosomia, hypoglycemia, and visceromegaly and omphalocele)
• Cantrell’s pentalogy (lower thoracic wall malformations [cleft sternum], ectopia cordis, epigastric omphalocele, anterior midline diaphragmatic hernia, and cardiac anomalies)

There is a 60% to 70% incidence of associated anomalies, especially cardiac (20%–40% of cases) and chromosomal abnormalities. Chromosomal anomalies are more common in children with smaller defects. Omphalocele is associated with prematurity (10%–50% of cases) and intrauterine growth restriction (20% of cases).

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