Neonatal survival of prenatally diagnosed exomphalos.

PURPOSE

Exomphalos is a midline defect, with a viable sac composed of amnion and peritoneum containing herniated abdominal contents with an incidence of about 1 in 4,000 live births. Associated major abnormalities can be karyotypic, syndromic or structural in up to 70% of cases. The aim of this study is to determine the factors that influence survival of antenatally diagnosed exomphalos.

METHODS

All antenatally diagnosed and postnatally confirmed exomphalos registered with our fetal medicine unit, during 2002-2007, were reviewed. Both prenatal and postnatal outcomes were analysed.

RESULTS

Of 88 cases identified with exomphalos, 85 were prenatally diagnosed. Fifty-five of them died in utero (45 terminations, 5 spontaneous abortions and 5 still births). There were 33 live births (37.5%), 7 of which were premature (30-35/40 gestation). Five babies died before coming to surgery (all with major exomphalos as well as abnormal karyotype) while 28 were operated upon. Fourteen cases with minor exomphalos, all isolated, were primarily closed and all survived to discharge. Of 14 babies with major exomphalos, 4 were closed primarily. Nine required silo formation and six successfully underwent secondary closure (one of which had a prenatal diagnosis of giant ruptured exomphalos). Three died before closure, two from sepsis and multi-organ failure, and one from an undiagnosed tracheo-oesophalgeal cleft. All three deaths had antenatally diagnosed giant ruptured exomphalos and were less than 34/40 weeks gestation. One baby was managed conservatively with antiseptic solution applied to the sac and left to heal by secondary intention. There were 17 cases of isolated exomphalos (with no other structural abnormalities), all of which survived.

CONCLUSION

Antenatal diagnosis of exomphalos is 96% sensitive. Severe karyotypic and structural abnormalities were present in all intra-uterine and early postnatal deaths. Overall survival to discharge was 28%. Both minor and isolated exomphalos carried a good prognosis. Isolated exomphalos was a better prognostic factor than severity of the exomphalos itself. Ruptured giant exomphalos were associated with a poorer outcome especially in premature babies.