PMID: 9183489May 1, 1997Paper

Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity

Acta Paediatrica
C CastellaniG Mastella

Abstract

To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we designed a special protocol. Spot trypsin estimation at birth, trypsin re-testing after 1 month, meconium lactase testing and mutation analysis of delta F508, R1162X and N1303K, were retrospectively clustered according to different patterns (trypsin/lactase/mutation; trypsin/lactase/re-testing; trypsin/mutation) and compared. The programme, which lasted 2 years (1993-94) and covered most of North-eastern Italy, included 95,553 screened newborns. Thirty-four affected babies were detected by screening and one by meconium ileus (incidence 1/2730). The combined use of trypsin, lactase and mutation analysis in cystic fibrosis neonatal screening permits a better sensitivity compared to the two other combinations (34 diagnoses vs 32 in both cases). Moreover, the higher specificity of the former method (false positives 42 vs 148) allows a reduction of recalls, which cause considerable anxiety. We confirm in trypsin-positive newborns an increased frequency of cystic fibrosis heterozygotes (1/17).

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Citations

May 17, 2007·Journal of Inherited Metabolic Disease·Bridget Wilcken
Oct 29, 1998·Journal of Chromatography. B, Biomedical Sciences and Applications·T M Phillips, J M Krum
Nov 25, 2003·Paediatric Respiratory Reviews·Bridget Wilcken, Veronica Wiley
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Jan 8, 2000·Acta Paediatrica. Supplement·B Wilcken, G Travert
Jan 8, 2021·Italian Journal of Pediatrics·Matteo BottiGiovanni Taccetti

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