Prenatal diagnosis of Norrie disease based on ultrasound findings

What is it about?

Norrie disease is a rare genetic condition that manifests by ocular features during the third trimester of pregnancy after normal scan findings of the first two trimesters of pregnancy. Only two antenatal diagnosis of Norrie disease have been reported previously, both oriented by familial history. We suspected Norrie disease in a fetus based only on prenatal ultrasonography findings during the third trimester. Molecular screening of the NDP gene confirmed this diagnosis and allowed accurate genetic counselling.

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