Associations Between Fetal Genetic Abnormalities, Lesion Size, and Postnatal Outcomes Among Pregnancies Complicated...

This study aimed to determine if omphalocele ratios can function as predictors of genetic abnormalities and to assess whether genetic anomalies influence postnatal surgical closure in pregnancies complicated by fetal omphalocele.

This was a retrospective study of pregnancies complicated by fetal omphalocele. Omphalocele size, ratios, and presence of extracorporeal liver were evaluated as predictors of abnormal genetic testing results. Surgical outcomes of subjects with identified genetic abnormalities were compared to those without genetic anomalies. Receiver operating curve analyses were performed to predict abnormal genetic testing.

Hundred and thirty-nine fetal omphalocele cases were identified during the study period, with 56 cases included in this analysis. Abnormal genetic results were detected in 9 cases (16.1%). Omphalocele size cut-offs and ratios were poor predictors of genetic abnormality. Patients with genetic findings were more likely to present with smaller omphaloceles. Primary closure occurred in 89% of neonates with a genetic abnormality versus 42.5% of neonates without a genetic anomaly (P = .02).

While pregnancies with genetic abnormalities were associated with smaller lesions and higher rates of primary surgical closure, no lesion measurement performed well as a predictor of genetic abnormality. Our findings support offering genetic testing in all cases of fetal omphalocele, regardless of size.