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- Title
Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis.
- Authors
Padoan, R; Genoni, S; Moretti, E; Seia, M; Giunta, A; Corbetta, C
- Abstract
A study was performed on the delayed diagnosis of cystic fibrosis (CF) in infants who had false-negative results in a neonatal screening programme. The genetic and clinical features of false-negative infants in this screening programme were assessed together with the efficiency of the screening procedure in the Lombardia region. In total, 774,687 newborns were screened using a two-step immunoreactive trypsinogen (IRT) (in the years 1990-1992), IRT/IRT + delF508 (1993-1998) or IRT/IRT + polymerase chain reaction (PCR) and oligonucleotide ligation assay (OLA) protocol (1998-1999). Out of 196 CF children born in the 10 y period 15 were false negative on screening (7.6%) and molecular analysis showed a high variability in the genotypes. The cystic fibrosis transmembrane regulator (CFTR) gene mutations identified were delF508, D1152H, R1066C, R334W, G542X, N1303K, F1052V, A120T, 3849 + 10kbC --> T, 2789 + 5G --> A, 5T-12TG and the novel mutation D110E. In three patients no mutation was identified after denaturing gradient gel electrophoresis of the majority of CFTR gene exons.
- Publication
Acta paediatrica (Oslo, Norway : 1992), 2002, Vol 91, Issue 1, p82
- ISSN
0803-5253
- Publication type
Journal Article
- DOI
10.1080/080352502753458012