Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele

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Abstract
Objective To assess the outcome following an ultrasound diagnosis of isolated fetal omphalocele (normal karyotype). Methods 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. Results 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. Conclusions 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. Copyright © 2009 John Wiley & Sons, Ltd.

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