Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 175, Issue 2, Pages 181-193Publisher
SPRINGER
DOI: 10.1007/s00431-015-2616-3
Keywords
Cystic fibrosis; Immunoreactive trypsinogen; Newborn screening; CFTR; Mutation analysis
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Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) levels in dried blood spots from newborns using the IMMUCHEM (TM) Blood Spot Trypsin-MW ELISA kit. Any specimen in the top 5 % IRT level underwent DNA analysis using the InPlex(A (R)) CF Molecular Test. Of the 1.48 million newborns screened during the 6-year time period, 7631 babies were referred for follow-up. CF was confirmed in 251 cases, and 94 cases were diagnosed with CF transmembrane conductance regulated-related metabolic syndrome or possible CF. Nine reports of false negatives were made to the program. Variation in daily average IRT was observed depending on the season (4-6 ng/ml) and kit lot (< 3 ng/ml), supporting the use of a floating cutoff. The screening method had a sensitivity of 96.5 %, specificity of 99.6 %, positive predictive value of 4.5 %, and negative predictive value of 99.5 %. Conclusion: Considerations for CF screening algorithms should include IRT variations resulting from age at specimen collection, sex, race/ethnicity, season, and manufacturer kit lots.
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