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Outcomes of antenatally diagnosed exomphalos
  1. R A Samangaya1,
  2. F Murphy2,
  3. S McGlory2,
  4. T Zaidi2,
  5. J Gillham1,
  6. A Morabito2
  1. 1St Mary's Hospital, Manchester, UK
  2. 2Royal Manchester Children's Hospital, Manchester, UK

Abstract

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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