Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis

Rita Padoan, S. Genoni, E. Moretti, M. Seia, A. Giunta, C. Corbetta

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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, A2120T, 3849 + 10kbC → T, 2789 + 5G → A, 5T12TG 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.

Original languageEnglish
Pages (from-to)82-87
Number of pages6
JournalActa Paediatrica, International Journal of Paediatrics
Issue number1
Publication statusPublished - 2002


  • CFTR
  • Cystic fibrosis
  • False negative
  • IRT
  • Neonatal screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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