title: Neonatal screening for alpha-1-antitrypsin deficiency.
abstract: The results of a neonatal screening programme for alpha-1-antitrypsin deficiency are presented. Cord blood samples with an alpha-1-antitrypsin concentration below 1.628 mg/ml, as measured by an enzyme-linked immunosorbent assay method, were phenotyped by isoelectric focusing in polyacrylamide gels. Abnormal phenotypes were found in 51% of this group as compared with 11.3% in a control group (P much less than 0.0001). Twenty subjects detected by the initial quantitative alpha-1-antitrypsin determination had a highly pathogenic phenotype (PiZZ, PiSS, PiSZ). In the control group only moderately affected individuals were found (PiMS, PiMZ).
authors.affiliation: Department of Microbiology, Dr. L. Willems-Instituut, Diepenbeek, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Kimpen
authors.forename: E
authors.initials: E
authors.lastname: Bosmans
authors.forename: J
authors.initials: J
authors.lastname: Raus
mesh_terms: D001530:Belgium; D003430:Cross-Sectional Studies; D004797:Enzyme-Linked Immunosorbent Assay; D005312:Fetal Blood / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency