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• W2078475024 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 10y 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. Conclusion: The clinical phenotypes of CF children diagnosed by their symptoms at different ages were very mild. None of them presented with a severe lung disease. The majority of them did not seem to have been damaged by the delayed diagnosis. The combination of IRT assay plus genotype analysis (1998-1999) appears to be a more reliable method of detecting CF than IRT measurement alone or combined with only the delF508 mutation." @default.
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• W2078475024 date "2007-01-02" @default.
• W2078475024 modified "2023-09-26" @default.
• W2078475024 title "Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis" @default.
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• W2078475024 doi "https://doi.org/10.1111/j.1651-2227.2002.tb01646.x" @default.
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