title: Results of second trimester prenatal diagnosis of cystic fibrosis in risk families.
abstract: Investigation of 17 children delivered after prenatal examination of amniotic fluid GGT was performed. GGT testing was carried out in the 17th-18th week of gestation. The development of children unaffected by cystic fibrosis was predicted. In all pregnancies, clinically healthy children with normal sweat chloride concentrations were delivered. Our results confirm the advantage of the examination of microvillar enzymes in amniotic fluid in the second trimester as a rather reliable method of fetal diagnosis of cystic fibrosis if it is impossible to use the molecular genetic methods in the first trimester.
authors.affiliation: School of Paediatrics, Charles University, Prague.
authors.forename: V
authors.initials: V
authors.lastname: Vávrová
authors.forename: H
authors.initials: H
authors.lastname: Thomásová
authors.forename: M
authors.initials: M
authors.lastname: Macek
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000201:enzymology; D002712:Chlorides / Q000032:analysis; D004796:Clinical Enzyme Tests; D003550:Cystic Fibrosis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012307:Risk Factors; D013542:Sweat / Q000032:analysis; D005723:gamma-Glutamyltransferase / Q000032:analysis
chemical_list: D002712:Chlorides; D005723:gamma-Glutamyltransferase