omphalocele

An omphalocele is a congenital defect of the abdominal wall in which the intestines and other abdominal organs protrude through the umbilical ring into a sac formed by the peritoneum and amnion. Unlike gastroschisis, the herniated organs remain covered by this protective sac. Contents may include bowel, liver, and other organs, and the size of the defect can vary widely.

Omphaloceles occur in about 1 in 4,000 live births and are frequently associated with other congenital anomalies or genetic syndromes. Up to half or more of cases have additional abnormalities, including cardiac defects, neural tube defects, and chromosomal disorders such as trisomy 13, 18, and 21, as well as Beckwith-Wiedemann syndrome. Risk factors include maternal diabetes and obesity. Prenatal risk assessment often relies on ultrasound, which can detect the sac and assess associated anomalies; maternal serum alpha-fetoprotein may be elevated.

Diagnosis is typically made during pregnancy by ultrasound, with MRI sometimes used for detailed evaluation. After birth, management focuses on protecting the sac, preventing rupture, and planning surgical repair. If feasible, primary closure may be performed. In large defects or when substantial liver or other organs are involved, staged reduction with a silo or delayed repair is used to gradually return contents to the abdomen. Postoperative care usually requires intensive care, parenteral and later enteral feeding, and monitoring for complications such as infection, respiratory distress, or enteroatmospheric fistula in exposed cases.

Prognosis depends on defect size, liver involvement, and the presence and severity of associated anomalies. With modern surgical techniques and multidisciplinary care, survival has improved, but long-term outcomes are influenced by comorbid conditions and developmental challenges.