Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele.
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.
Georgetown University, Washington, DC, USA.
Amina
A
Porter
Carol B
CB
Benson
Pam
P
Hawley
Louise
L
Wilkins-Haug
D000293:Adolescent; D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000453:epidemiology; D015897:Comorbidity; D003951:Diagnostic Errors / Q000706:statistics & numerical data; D005260:Female; D005865:Gestational Age; D006554:Hernia, Umbilical / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology; D011379:Prognosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal; D055815:Young Adult