title: The invasive prenatal diagnosis in perinatal centre.
abstract: Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cordocentesis FBS) have been used in Perinatal Centre of Central Bohemia. The chromosomal abnormalities in a group of 3,098 patients have been detected in 1.4% of fetuses. The inherited disorders were diagnosed using DNA analysis and biochemical examination of amniotic fluid. X-linked diseases in a group of 68 patients in 30.8% of fetuses have been diagnosed and inborn error of metabolism in a group of 29 indicated patients in 17.2% of fetuses were diagnosed. The incidence of fetal losses before 28th week of gestation was 0.4%.
authors.affiliation: 1st Obstetrics and Gynecology Department, 1st Faculty of Medicine, Charles University, Praha, Czech Republic.
authors.forename: Z
authors.initials: Z
authors.lastname: Hájek
authors.forename: T
authors.initials: T
authors.lastname: Koleska
authors.forename: P
authors.initials: P
authors.lastname: Drbohlav
authors.forename: I
authors.initials: I
authors.lastname: Spálová
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: D
authors.initials: D
authors.lastname: Stejskal
authors.forename: J
authors.initials: J
authors.lastname: Kvasnicka
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis