Omphalocele in the first trimester: prediction of perinatal outcome

This study aims to evaluate the perinatal outcomes of fetuses with isolated omphalocele diagnosed before 14 weeks of gestation (WG) and determine whether visceral-abdominal disproportion (ratio between mean omphalocele diameter and transverse abdominal diameter) and omphalocele contents can predict neonatal morbidity.

This is a retrospective cohort study of omphaloceles diagnosed before 14 WG at three tertiary centers between January 1998 and January 2010. In the group of isolated omphaloceles (i.e., euploid and no other malformation), ratio of visceral-abdominal disproportion and omphalocele contents were evaluated as predictors of perinatal morbidity.

Among 153 fetal omphaloceles diagnosed before 14 WG, 74 were excluded because of abnormal karyotype or other malformations. Among the 79 isolated fetal omphaloceles, the survival rate at birth was 68% (54/79), with a global morbidity rate of 33% (18/54). Of the live born fetuses, 92.6% (50/54) survived the neonatal period, and 96% (48/50) without long-term sequelae. There was a significant increase in neonatal morbidity when the ratio of disproportion was greater than 0.8 or when the liver was contained in the omphalocele in the first trimester.

In cases of isolated omphalocele in the first trimester, visceral-abdominal disproportion and omphalocele contents predict perinatal morbidity.