title: [Prenatal diagnosis of cystic fibrosis by mutational analysis].
abstract: The authors give a review about the latest method of the prenatal diagnosis of cystic fibrosis. Examples were chosen from their own cases to illustrate the possibilities of the prenatal diagnosis based on the mutation analysis of the CFTR gene. Using both mutation and haplotype analysis, 10 prenatal diagnosis were performed from chorionic villus samples taken in the early stage of the pregnancy (10-12 weeks). There were 5 healthy and 5 affected fetuses found. The advantage of this method, that in certain cases, diagnosis is available for families having no live affected child.
authors.affiliation: Semmelweiss Orvostudományi Egyetem, Budapest.
authors.forename: M
authors.initials: M
authors.lastname: Németi
authors.forename: C
authors.initials: C
authors.lastname: Papp
authors.forename: E
authors.initials: E
authors.lastname: Tóth-Pál
authors.forename: Z
authors.initials: Z
authors.lastname: Papp
mesh_terms: D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis
vernacular_title: A cystikus fibrosis praenatalis diagnosztikája mutáció analízissel.