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.
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