Newborn screening for cystic fibrosis in Switzerland — Consequences after analysis of a 4 months pilot study

Abstract Background Switzerland introduced newborn screening (NBS) for CF in 2011, using an IRT/DNA/IRT protocol. This paper describes the results of the first year and compares two versions of the protocol with different IRT cut-offs, particularly effects on recall rate, sensitivity and specificity...

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Bibliographic Details
Published in:Journal of cystic fibrosis 2013-12, Vol.12 (6), p.667-674
Main Authors: Torresani, Toni, Fingerhut, Ralph, Rueegg, Corina S, Gallati, Sabina, Kuehni, Claudia E, Baumgartner, Matthias R, Barben, Juerg
Format: Article
Language:English
Subjects:
Algorithms
Cystic fibrosis
Cystic Fibrosis - genetics
Cystic Fibrosis - prevention & control
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
DNA Mutational Analysis
Humans
Immunoreactive trypsinogen
Infant, Newborn
Neonatal Screening
Newborn screening
Pilot Projects
Pulmonary/Respiratory
Recall rate
Sensitivity and Specificity
Sweat - chemistry
Switzerland
Trypsinogen - blood
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Summary:Abstract Background Switzerland introduced newborn screening (NBS) for CF in 2011, using an IRT/DNA/IRT protocol. This paper describes the results of the first year and compares two versions of the protocol with different IRT cut-offs, particularly effects on recall rate, sensitivity and specificity. Methods IRT cut-offs were > 45 ng/ml (99.0th percentile) in period 1 (months 1–4) and > 50 ng/ml (99.2nd percentile) in period 2 (months 5–12). In period 2 we abstained from recalls when none of the 7 most common CF mutations were detected and IRT was < 60 ng/ml. Results In periods 1 and 2, 26,535 and 56,663 tests were performed. Recall rates were 0.94% and 0.48%, respectively (p < 0.001), PPV increased from 23% to 47% (p = 0.024) and sensitivity was 90% and 100%. Conclusions Raising initial IRT cut-off from the 99.0th to the 99.2nd percentile and abstaining from recalls for children with an IRT < 60 ng/ml and carrying no major CFTR mutation significantly reduced the recall rate without affecting sensitivity.
ISSN:1569-1993
1873-5010
DOI:10.1016/j.jcf.2013.04.008