The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.

doi:10.1111/j.1399-0004.1991.tb03015.x

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Article

The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.

Clinical genetics - 1 Mar 1991

Macek M, Macek M, Stuhrmann M, Kulovaný E, Dolanská M, Koukolík F, Boehm I, Hronková J, Jezková Z, Paulová M

Abstract excerpt

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)...

Topics

Chromosome Deletion
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Fetal Diseases
Genetic Linkage
Genetic Markers
Humans
Infant, Newborn
Infant, Premature
Intestinal Pseudo-Obstruction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Meconium

Membrane Proteins

Mutation

Polymerase Chain Reaction

Polymorphism, Genetic

alpha-Fetoproteins

Source

Open in PubMed

Identifiers

PMID: 1709842
DOI: 10.1111/j.1399-0004.1991.tb03015.x

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1709842-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy.PMID 1709842Read ↗

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