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

作者：Torresani Toni; Fingerhut Ralph; Rueegg Corina S; Gallati Sabina; Kuehni Claudia E; Baumgartner Matthias R; Barben Juerg^*

来源：Journal of Cystic Fibrosis, 2013, 12(6): 667-674.

DOI：10.1016/j.jcf.2013.04.008

• Newborn screening
• Cystic fibrosis
• Immunoreactive trypsinogen
• Recall rate

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. %26lt;br%26gt;Methods: IRT cut-offs were %26gt;45 ng/ml (99.0th percentile) in period 1 (months 1-4) and %26gt;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 %26lt;60 ng/ml. %26lt;br%26gt;Results: hi periods 1 and 2, 26,535 and 56,663 tests were performed. Recall rates were 0.94% and 0.48%, respectively (p %26lt;0.001), PPV increased from 23% to 47% (p = 0.024) and sensitivity was 90% and 100%. %26lt;br%26gt;Conclusions: Raising initial IRT cut-off from the 99.0th to the 99.2nd percentile and abstaining from recalls for children with an IRT %26lt; 60 ng/ml and carrying no major CFTR mutation significantly reduced the recall rate without affecting sensitivity.

• 出版日期2013-12