Significance of septations in isolated fetal cystic hygroma detected in the first trimester

Abstract

Recent reports have indicated an increased risk for fetal chromosome abnormalities, especially autosomal trisomy, in fetuses with isolated cystic hygroma, or prominent nuchal membranes, detected by ultrasonography during the first trimester. However, these reports present contradictory information regarding the prognostic significance of septations within the cystic hygroma. We evaluated, in blind fashion, 55 consecutive cases of isolated fetal cystic hygroma detected at or before 13.9 weeks' gestation to determine the association between septations and fetal chromosome complement. Septations were associated (P < 0.05) with an increased risk for fetal chromosome abnormalities. However, the incidence of chromosome abnormalities was also increased (12.5 per cent) among cases not characterized by septations. Thus, we believe it prudent to offer invasive prenatal testing to all women found to be carrying fetuses with cystic hygroma, irrespective of the presence or absence of septations.