title: Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.
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).
authors.affiliation: Cystic Fibrosis Centre, Verona, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Castellani
authors.forename: A
authors.initials: A
authors.lastname: Bonizzato
authors.forename: G
authors.initials: G
authors.lastname: Cabrini
authors.forename: G
authors.initials: G
authors.lastname: Mastella
mesh_terms: D002985:Clinical Protocols; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism / Q000517:prevention & control*; D004252:DNA Mutational Analysis / Q000379:methods; D018740:Genetic Heterogeneity; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D043322:Lactase; D008470:Meconium / Q000737:chemistry; D015997:Neonatal Screening / Q000379:methods*; D015203:Reproducibility of Results; D012189:Retrospective Studies; D014357:Trypsin / Q000097:blood; D001616:beta-Galactosidase / Q000032:analysis
chemical_list: D043322:Lactase; D001616:beta-Galactosidase; D014357:Trypsin