Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele

Abstract

To assess the outcome following an ultrasound diagnosis of isolated fetal omphalocele (normal karyotype). Ultrasound database (1988-2002) was searched for omphalocele. Categories assigned as (1) isolated-no additional structural/karyotype anomalies, (2) associated minor abnormality, and (3) major structural/karyotype abnormalities. Ultrasound identified 65 cases, 13 with isolated omphalocele and 6 with associated minor anomalies. These 19 cases represented 29.2% of the population (19/65); isolated omphalocele was confirmed in 14 neonates (14/19, 73.7%). In five neonates, unrecognized by prenatal ultrasound were cardiac anomalies (2 cases), tracheoesophageal atresia with cardiac anomaly (1 case), and Beckwith-Wiedemann syndrome (BWS) (2 cases). A minor ultrasound finding did not predict further anomalies at birth. Preterm delivery complicated 37.5%; the only deaths occurred among preterm infants. Follow-up of isolated omphalocele found no long-term medical issues or learning disabilities except speech delay. Isolated fetal omphalocele is the exception. An additional minor ultrasound finding does not impact a relatively good prognosis with little long-term morbidity. However, this series highlights two areas of caution: (1) one-third were delivered preterm with a 50% rate of demise and (2) in a quarter of cases, an additional major anomaly or BWS was identified in the neonate.