Prenatal diagnosis of omphalocele with extracorporeal liver.

Omphalocele is a congenital anomaly characterized by a structural defect in the abdominal wall that leads to the protrusion of the intestines or other abdominal organs covered by a protective membrane. Approximately 20%-50% of omphalocele cases are associated with trisomy 13, 18, and 21 and result in fetal death. Prenatal diagnosis of omphalocele can be made by late first trimester ultrasound with a sensitivity of 75% and specificity of 95%, or by elevated maternal serum alpha-fetoprotein concentration. Large omphaloceles (>5 cm) are generally present with extracorporeal liver (ECL) herniation, resulting from arrested lateral fold development and failure of abdominal wall closure in the first month of pregnancy. Omphalocele with ECL demonstrated a decreased incidence of congenital anomalies in comparison to those with intracorporeal liver. Nevertheless, ECL is linked to a greater number of life-threatening anatomical and amniotic volume abnormalities. We present a case of omphalocele with extracorporeal liver in 35-36 weeks' gestation and highlight the importance of defect size measurement and extracorporeal liver identification to aid prenatal counseling in making informed decisions about postnatal interventions.
(© 2024 The Authors.)