Objective To determine outcomes for antenatally diagnosed exomphalos over an 11 year period.
Method All cases diagnosed with exomphalos (January 1998–December 2008) in a fetal medicine unit at a tertiary unit were reviewed.
Results 96 cases of exomphalos were diagnosed antenatally at 12–27 weeks. There was isolated exomphalos in 43 (44.8%) cases and other anomalies present in 53 (55.2%) cases. 66 women (68.8%) had karyotyping performed, demonstrating normal karyotype in 49 cases (74.2%), trisomy 18 in 13 cases (19.7%) and trisomy 13 in one case (1.5%). When other anomalies were present the karyotype was abnormal in 44.8%. Karyotype was abnormal in 8.3% of isolated exomphalos.
53 (55.2%) women opted for termination. In pregnancies terminated, 26.4% had a known chromosomal anomaly and 69.8% had other structural anomalies on scan.
43 (44.8%) women continued the pregnancy; three were lost to follow-up. There were nine (20.9%) fetal deaths in utero at 14–38 weeks. 31 babies with exomphalos were delivered at a median gestation of 37 weeks (range 29–39 weeks). 15 (48.4%) were delivered by caesarean section and 16 (51.6%) were normal deliveries. Postnatally one baby was diagnosed with trisomy 18, and four had a genetic syndrome. The survival (defined as discharge from hospital) was 74.2%, and 76.7% after excluding chromosomal anomalies. Survival was 30% when other structural anomalies were present, and 0% with ruptured exomphalos.
Conclusions There was a high incidence of fetal death in utero. Poor prognostic indicators for survival were other anomalies on scan and ruptured exomphalos.
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