Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers

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dc.contributor.authorGursoy, Tugba Ramasli
dc.contributor.authorAsfuroglu, Pelin
dc.contributor.authorEyuboglu, Tugba Sismanlar
dc.contributor.authorAslan, Ayse Tana
dc.contributor.authorYilmaz, Asli Imran
dc.contributor.authorUnal, Gokcen
dc.contributor.authorKibar, Busra Sultan
dc.date.accessioned2024-02-23T13:43:50Z
dc.date.available2024-02-23T13:43:50Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractWe aimed to evaluate cutoff values of immunoreactive trypsinogen (IRT)/IRT and determine relationship between IRT values and clinical characteristics of children with cystic fibrosis (CF). This study is cross-sectional study. Data of children with positive newborn screening (NBS) between 2015 and 2021 were evaluated in three pediatric pulmonology centers. Age at admission, sex, gestational age, presence of history of meconium ileus, parental consanguinity, sibling with CF, and doll-like face appearance, first and second IRT values, sweat chloride test, fecal elastase, fecal fat, biochemistry results, and age at CF diagnosis were recorded. Sensitivity and specificity of IRT cutoff values were evaluated. Of 815 children with positive NBS, 58 (7.1%) children were diagnosed with CF. Median values of first and second IRT were 157.2 (103.7-247.6) and 113.0 (84.0-201.5) mu g/L. IRT values used in current protocol, sensitivity was determined as 96.6%, specificity as 17.2% for first IRT, and 96.6% sensitivity, 20.5% specificity for second IRT. Positive predictive value (PPV) was determined as 7.1%. When cutoff value for first IRT was estimated as 116.7 mu g/L, sensitivity was 69.0% and specificity was 69.6%, and when cutoff value was set to 88.7 mu g/L for second IRT, sensitivity was 69.0% and specificity was 69.0%. Area under curve was 0.757 for first and 0.763 for second IRT (p < 0.001, p < 0.001, respectively). PPV was calculated as 4.3%. Conclusion:Although sensitivity of CF NBS is high in our country, its PPV is significantly lower than expected from CF NBS programs. False-positive NBS results could have been overcome by revising NBS strategy.en_US
dc.identifier.doi10.1007/s00431-022-04766-4
dc.identifier.endpage1076en_US
dc.identifier.issn0340-6199
dc.identifier.issn1432-1076
dc.identifier.issue3en_US
dc.identifier.pmid36565324en_US
dc.identifier.scopus2-s2.0-85144702186en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1067en_US
dc.identifier.urihttps://doi.org/10.1007/s00431-022-04766-4
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10943
dc.identifier.volume182en_US
dc.identifier.wosWOS:000903419100002en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEuropean Journal Of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCutoffen_US
dc.subjectCystic Fibrosisen_US
dc.subjectImmunoreactive Trypsinogenen_US
dc.subjectNewborn Screeningen_US
dc.titleEvaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centersen_US
dc.typeArticleen_US

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