Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome

We present a case of a fetus in which an enlarged nuchal translucency was d efected at 12 weeks' gestation. The karyotype was normal. Subsequent ultras ound examination showed no obvious fetal abnormalities apart from a mild pe ricardial effusion. Serum screening revealed very low concentrations of est riol and human chorionic gonadotropin. After birth the diagnosis of Zellweg er syndrome was made. Nuchal translucency screening, estriol level identifi cation and detailed ultrasound scanning may help to identify fetuses affect ed by this syndrome.