Abstract

Is widely accepted that exomphalos containing liver is less likely to be associated with aneuploidy. We explore the influence of exomphalos contents and nuchal translucency (NT) on the likelihood of aneuploidy.

The cases of exomphalos were identified in two fetal medicine unit, during 10 years. Karyotype was ascertained prenatally. NT ≥95th centile was considered as abnormal. We identified 79 fetuses with exomphalos. NT was normal in 34 fetuses and in 60 cases the exomphalos contained bowel alone. Aneuploidy was significantly more common with exomphalos containing bowel alone (Chi squared = 5.9, p = 0.015). However, using logistic regression analysis we found no significant independent contribution of exomphalos content on the likelihood of aneuploidy (p = 0.145) and abnormal NT increased the odds for aneuploidy by 6.6 (95% CI: 2.3 to 19.0).