Cerebro-fronto-facial syndrome (Dandy-Walker Variant and frontofacial dysmorphisms): report of the first case identified by increased nuchal translucency beyond 13(+6) weeks.

Abstract excerpt

A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal translucency (NT) of 8.9 mm with an estimated risk of Down syndrome of 1:8. Fetal karyotype was normal...

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