omphaloceles

Omphalocele is a congenital abdominal wall defect in which abdominal contents herniate through the base of the umbilical cord and are covered by a protective sac formed from peritoneum and amnion. The condition results from failure of the fetal ventral body wall to close properly during early development, with the midgut returning to the abdomen around weeks 10 to 12 and remaining outside the abdominal cavity within the cord stump.

Omphaloceles vary in size and content. They are commonly classified as simple or complex, with simple cases containing only intestinal contents and complex cases associated with additional intestinal abnormalities such as atresia, volvulus, or necrosis. Giant omphaloceles, often containing liver within the sac, present additional management challenges. The condition is relatively rare, occurring in about 1 in 4,000 to 7,000 live births, and is more frequently seen with other congenital anomalies or syndromes, including cardiac defects, neural tube defects, and Beckwith-Wiedemann syndrome. Maternal diabetes and certain chromosomal abnormalities increase risk.

Diagnosis is typically made prenatally by ultrasound, with maternal serum alpha-fetoprotein potentially elevated. After birth, physical examination confirms the diagnosis, and evaluation for associated anomalies (e.g., echocardiography, genetic testing) is common.

Management requires a multidisciplinary approach. Stabilization at birth includes protecting the sac from rupture and preventing infection. Surgical repair is tailored to defect size and contents: small defects may allow primary closure; larger defects often require staged reduction with a silo or other methods, and sometimes use of prosthetic materials or tissue expansion. Isolated omphaloceles have the best prognosis, whereas survival declines with complex anatomy or concomitant major anomalies. Long-term outcomes focus on growth, nutrition, and bowel function.