Accuracy and impact of prenatal diagnosis in infants with omphalocele

BACKGROUND: Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented. AIM: To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution. MATERIALS AND METHODS: Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016. RESULTS: A total of 42 cases with prenatally diagnosed omphalocele were identified. Of those 14 (31%) decided to terminate the pregnancy (TOP). Of the remaining 28 that continued, 12 were giant omphaloceles. The overall mortality rate was 18, 25% for giant and 12% for non-giant omphaloceles. 64% had associated anomalies. Only 1/3 of these anomalies is diagnosed prenatally. CONCLUSION: The rate of associated malformations that are diagnosed postnatally is high, but the majority was malformations with a minor clinical significance or impact on future health. Beckwith–Wiedemann syndrome was present only in cases of non-giant omphalocele in our cohort.