| pubmed-article:8523199 | pubmed:abstractText | To review the overall performance of a neonatal screening program for cystic fibrosis (CF) from 1981 to 1994, and to compare two strategies of case detection. PROGRAM DESIGN: Initially, immunoreactive trypsin (IRT) was measured in dried blood spots, and because of the low sensitivity of this test at days 3 to 5, a second sample was needed from babies with positive test results. Since 1993 a positive IRT assay result has been followed by direct gene analysis for the common CF mutation, delta F508, with the use of the same sample. Cases with false-negative results were actively sought throughout the period. | lld:pubmed |
