title: The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.
abstract: The suspicion of prenatal meconium ileus syndrome was raised in a pregnancy in a family with no history of cystic fibrosis because of significantly higher maternal serum alpha-fetoprotein in the 16th and 19th week of gestation, dispersed areas with increased echogenity in the fetal abdomen, slight fetal ascites in the 24th-25th weeks of gestation, decreased amniotic fluid gamma-glutamyltranspeptidase (GGT) activity and alpha-fetoprotein level in the 25th-26th weeks, and normal 46,XY karotype of the fetus. The detection of a homozygous deltaF508 cystic fibrosis transmembrane regulator (CFTR) gene mutation, by means of PCR from a small amount of white blood cells and urine sediment cells, substantiated the diagnosis of cystic fibrosis in a prematurely delivered boy in the 28th week of gestation. The repeated sweat test was unsuccessful. The autopsy examination confirmed the diagnosis of cystic fibrosis. Fetal meconium ileus syndrome was complicated by peritonitis and by formation of a meconium pseudocyst. Direct PCR typing improves postnatal diagnostic possibilities in the early neonatal period in prematurely delivered babies when the sweat test is difficult to perform.
authors.affiliation: Institute of Human Genetics, Free University, Berlin, FRG.
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: M
authors.initials: M
authors.lastname: Stuhrmann
authors.forename: E
authors.initials: E
authors.lastname: Kulovaný
authors.forename: M
authors.initials: M
authors.lastname: Dolanská
authors.forename: F
authors.initials: F
authors.lastname: Koukolík
authors.forename: I
authors.initials: I
authors.lastname: Boehm
authors.forename: J
authors.initials: J
authors.lastname: Hronková
authors.forename: Z
authors.initials: Z
authors.lastname: Jezková
authors.forename: M
authors.initials: M
authors.lastname: Paulová
mesh_terms: D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005315:Fetal Diseases / Q000209:etiology*; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007418:Intestinal Pseudo-Obstruction / Q000209:etiology*; D008297:Male; D008470:Meconium; D008565:Membrane Proteins / Q000032:analysis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D000509:alpha-Fetoproteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator