title: Development of a screening system for cystic fibrosis: meconium or blood spot trypsin assay or both?
abstract: High blood trypsin levels during early days of life are found in newborns subsequently diagnosed to be affected by cystic fibrosis. The authors compared the validity of the traditional meconium test with the blood immunoreactive trypsin (IRT) assay, carried out in parallel on 113,302 neonates from three regions of North-eastern Italy. The meconium test showed a sensitivity of 57.7%. The sensitivity of the IRT test was higher (96.1%). It was possible to identify by IRT 10 out of 11 false negative CFs at the meconium test. A shortcoming of neonatal IRT, however, is its low specificity; 1.6% of the newborns had to be retested. A new screening policy was therefore proposed and carried out on 69,640 newborns: the Lactase test (LACT) on meconium was introduced as a complementary assay in IRT positive newborns. If LACT exceeded 2 U/g dry meconium, a confirmatory sweat test was immediately requested; if LACT test was negative and IRT exceeded 85 micrograms/l, IRT was repeated. Postneonatal retesting values above 25 micrograms/l required a sweat test. As a result, the estimated prevalence of CF was 1:4,352, the sensitivity was 93.3%; the specificity turned out to be 99.6%, considering all false positive newborns investigated with retesting and/or direct sweat test.
authors: Cystic Fibrosis Center, Verona, Italy.
authors: F
authors: F
authors: Pederzini
authors: D
authors: D
authors: Faraguna
authors: L
authors: L
authors: Giglio
authors: D
authors: D
authors: Pedrotti
authors: L
authors: L
authors: Perobelli
authors: G
authors: G
authors: Mastella
mesh_terms: D000418:Albumins / Q000032:analysis; D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D005779:Immunodiffusion; D007231:Infant, Newborn; D043322:Lactase; D008470:Meconium / Q000737:chemistry*; D015997:Neonatal Screening / Q000379:methods*; D011446:Prospective Studies; D011863:Radioimmunoassay; D012189:Retrospective Studies; D014357:Trypsin / Q000097:blood* / Q000276:immunology; D000515:alpha 1-Antitrypsin / Q000032:analysis; D001616:beta-Galactosidase / Q000032:analysis
chemical_list: D000418:Albumins; D000515:alpha 1-Antitrypsin; D043322:Lactase; D001616:beta-Galactosidase; D014357:Trypsin