Aims: To review the perinatal outcomes for prenatally diagnosed exomphalos from a single geographical region.
Methods: Retrospective review of cases of prenatally identified exomphalos in the state of Western Australia in the ten‐year period 1998–2007 using the medical databases of the sole tertiary obstetric and paediatric hospitals.
Results: Ninety‐four cases of prenatally identified exomphalos comprise this consecutive case series. Culture‐proven karyotypic abnormalities occurred in 40 (42.6%) fetuses. No karyotypically abnormal fetus survived the neonatal period, with 33 of 40 (82.5%) pregnancies interrupted, five of 40 (12.5%) resulting in fetal demise and two (5%) neonatal deaths. For the 49 (52.1%) fetuses with a normal karyotype, 26 (53.1%) had associated abnormalities with termination occurring in 22 (84.6%). Prenatally isolated exomphalos was present in 23 cases (24.5%), with live birth in 15 cases (30.6% of euploid fetuses). Fourteen (93.3%) of the liveborn prenatally isolated exomphalos cases survived with no postoperative deaths, although four (28.5%) had significant abnormalities detected postdelivery and most have experienced childhood morbidity.
Conclusions: In the the majority of cases of prenatally detected exomphalos the pregnancy was interrupted secondary to chromosomal or structural abnormalities. In only 10.6% of prenatally recognised fetuses with exomphalos was the disorder truly isolated with neonatal survival occurring.