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PubMed 26574590


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Automatically associated channels: Kir6.2



Title: Newborn Screening for Cystic Fibrosis in California.

Authors: Martin Kharrazi, Juan Yang, Tracey Bishop, Shellye Lessing, Suzanne Young, Steven Graham, Michelle Pearl, Helen Chow, Thomson Ho, Robert Currier, Leslie Gaffney, Lisa Feuchtbaum,

Journal, date & volume: Pediatrics, 2015 Dec , 136, 1062-72

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26574590


Abstract
This article describes the methods used and the program performance results for the first 5 years of newborn screening for cystic fibrosis (CF) in California.From July 16, 2007, to June 30, 2012, a total of 2,573,293 newborns were screened for CF by using a 3-step model: (1) measuring immunoreactive trypsinogen in all dried blood spot specimens; (2) testing 28 to 40 selected cystic fibrosis transmembrane conductance regulator (CFTR) mutations in specimens with immunoreactive trypsinogen values ≥62 ng/mL (top 1.6%); and (3) performing DNA sequencing on specimens found to have only 1 mutation in step 2. Infants with ≥2 mutations/variants were referred to CF care centers for diagnostic evaluation and follow-up. Infants with 1 mutation were considered carriers and their parents offered telephone genetic counseling.Overall, 345 CF cases, 533 CFTR-related metabolic syndrome cases, and 1617 carriers were detected; 28 cases of CF were missed. Of the 345 CF cases, 20 (5.8%) infants were initially assessed as having CFTR-related metabolic syndrome, and their CF diagnosis occurred after age 6 months (median follow-up: 4.5 years). Program sensitivity was 92%, and the positive predictive value was 34%. CF prevalence was 1 in 6899 births. A total of 303 CFTR mutations were identified, including 78 novel variants. The median age at referral to a CF care center was 34 days (18 and 37 days for step 2 and 3 screening test-positive infants, respectively).The 3-step model had high detection and low false-positive levels in this diverse population.