Accuracy and impact of prenatal diagnosis in infants with omphalocele

Peter Conner, Jenny Hammarqvist Vejde, Carmen Mesas Burgos

Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented. 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. Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016. 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. 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.