Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes

Abstract

Purpose: To detect omphalocele and associated anomalies at ultrasonography (US) early in pregnancy and to describe the outcomes in fetuses with isolated and nonisolated omphalocele.

Material and methods: Fetal endovaginal US was performed in 43,896 pregnant women at 12-16 weeks gestation. The women found to have fetal omphalocele were offered an amniocentesis to determine the fetal karyotype. For parents who decided to continue the pregnancy, repeat targeted transabdominal fetal US was performed at 20-24 weeks gestation. Additional follow-up US examinations performed until delivery were recommended. Postnatal pediatric examinations were performed in all of these fetuses. For the pregnancies in which no anomaly was detected at early US, the women were advised to undergo repeat US at about 24 weeks gestation for the detection of late-manifesting fetal anomalies. For pregnancies in which the baby was not delivered at the authors' affiliated hospital, the woman, her obstetrician, and her pediatrician were asked to inform the authors of any detected anomaly.

Results: Omphalocele was visualized at US in 38 fetuses, who were categorized into two groups. One group consisted of 22 (58%) fetuses with associated structural anomalies. According to the karyotype determined for 18 of these fetuses, 11 of them also had chromosomal anomalies. The pregnancy was terminated at the parents' request in 19 of these 22 cases. There were two cases of missed abortion, and a small omphalocele in one fetus disappeared at 21 weeks gestation. The second group consisted of 16 (42%) fetuses with a normal karyotype and an omphalocele as an isolated US finding. In eight of these fetuses, the omphalocele disappeared at 20-24 weeks gestation and no defect was seen at delivery. In six other fetuses, omphalocele was identified at delivery. There was one case each of missed abortion and pregnancy termination. There were no false-negative diagnoses of omphalocele.

Conclusion: Isolated omphalocele diagnosed during the early stages of gestation typically has a good prognosis. In cases of a small defect, the anomaly may disappear later in the pregnancy.