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Autosomal dominant polycystic kidney disease: Prenatal diagnosis by DNA analysis and sonography at 14 weeks
Authors:I Ceccherini  M Lituania  M S Cordone  F Perfumo  R Gusmano  F Callea  N Archidiacono  G Romeo
Institution:1. Lab. Genetica Molecolare, Divisioni di, Genova, 16148, Italy;2. Ostetricia e, Genova, 16148, Italy;3. Nefrologia e, Genova, 16148, Italy;4. Servizio di Anatomia Patologica dell' Istituto Giannina Gaslini, Genova, 16148, Italy
Abstract:A pregnant woman affected with autosomal dominant polycystic kidney disease (ADPKD) had a history of an affected fetus, diagnosed by sonography at 29 weeks of pregnancy. The proband's father was also affected. DNA analysis performed on chorionic villi at 11 weeks during a second pregnancy predicted an affected fetus, and sonographic examination at 14 weeks confirmed the diagnosis.
Keywords:Polycystic kidney disease  Prenatal diagnosis  DNA analysis  Echotomography
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