کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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6219351 | 1607426 | 2016 | 10 صفحه PDF | دانلود رایگان |
ObjectiveTo evaluate the performance of a new cystic fibrosis (CF) newborn screening algorithm, comprised of immunoreactive trypsinogen (IRT) in first (24-48Â hours of life) and second (7-14Â days of life) dried blood spot plus DNA on second dried blood spot, over existing algorithms.Study designA retrospective review of the IRT/IRT/DNA algorithm implemented in Colorado, Wyoming, and Texas.ResultsA total of 1â520â079 newborns were screened, 32â557 (2.1%) had abnormal first IRT; 8794 (0.54%) on second. Furthermore, 14â653 mutation analyses were performed; 1391 newborns were referred for diagnostic testing; 274 newborns were diagnosed; and 201/274 (73%) of newborns had 2 mutations on the newborn screening CFTR panel. Sensitivity was 96.2%, compared with sensitivity of 76.1% observed with IRT/IRT (105Â ng/mL cut-offs, PÂ <Â .0001). The ratio of newborns with CF to heterozygote carriers was 1:2.5, and newborns with CF to newborns with CFTR-related metabolic syndrome was 10.8:1. The overall positive predictive value was 20%. The median age of diagnosis was 28, 30, and 39.5Â days in the 3 states.ConclusionsIRT/IRT/DNA is more sensitive than IRT/IRT because of lower cut-offs (â¼97 percentile or 60Â ng/mL); higher cut-offs in IRT/IRT programs (>99 percentile, 105Â ng/mL) would not achieve sufficient sensitivity. Carrier identification and identification of newborns with CFTR-related metabolic syndrome is less common in IRT/IRT/DNA compared with IRT/DNA. The time to diagnosis is nominally longer, but diagnosis can be achieved in the neonatal period and opportunities to further improve timeliness have been enacted. IRT/IRT/DNA algorithm should be considered by programs with 2 routine screens.
Journal: The Journal of Pediatrics - Volume 175, August 2016, Pages 150-158.e1