Omphalocele

Omphalocele, also known as exomphalos, is a congenital abdominal wall defect present at birth in which abdominal organs (such as the intestines, liver, or other viscera) herniate through the base of the umbilical cord and are covered by a membranous sac composed of peritoneum, Wharton's jelly, and amnion. The defect occurs during embryonic development when the abdominal contents fail to return to the abdominal cavity after their normal physiological herniation into the umbilical cord during the first trimester. Omphaloceles vary in size from small (containing only a few loops of bowel) to giant (containing the liver and other organs), and the size significantly influences clinical management and prognosis. Omphalocele primarily affects the abdominal wall and gastrointestinal system, but it is frequently associated with other congenital anomalies. Approximately 50–70% of affected infants have additional malformations, including congenital heart defects, genitourinary anomalies, musculoskeletal abnormalities, and chromosomal abnormalities such as trisomy 13, trisomy 18, and trisomy 21. Omphalocele is also a feature of recognized syndromes, including Beckwith-Wiedemann syndrome, pentalogy of Cantrell, and the omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex. Pulmonary hypoplasia may occur, particularly in cases of giant omphalocele, due to reduced abdominal domain and impaired diaphragmatic development. Diagnosis is typically made prenatally via ultrasound, often during the second trimester. Postnatal management depends on the size of the defect and the presence of associated anomalies. Small omphaloceles may be repaired with primary surgical closure shortly after birth, while giant omphaloceles often require a staged approach, including the application of topical agents (such as silver sulfadiazine or povidone-iodine) to promote gradual epithelialization of the sac (the "paint and wait" technique), followed by delayed surgical repair. Supportive care including respiratory support, nutritional management, and treatment of associated anomalies is essential. Long-term outcomes are generally favorable for isolated omphalocele, but prognosis is significantly influenced by the presence and severity of associated anomalies and chromosomal abnormalities.

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