title: Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks.
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.
authors.affiliation: Lab. Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
authors.forename: M
authors.initials: M
authors.lastname: Lituania
authors.forename: M S
authors.initials: MS
authors.lastname: Cordone
authors.forename: F
authors.initials: F
authors.lastname: Perfumo
authors.forename: R
authors.initials: R
authors.lastname: Gusmano
authors.forename: F
authors.initials: F
authors.lastname: Callea
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography