Dissemin is shutting down on January 1st, 2025

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Elsevier, Journal of Cystic Fibrosis, 6(12), p. 667-674, 2013

DOI: 10.1016/j.jcf.2013.04.008

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

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Data provided by SHERPA/RoMEO

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 >45ng/ml (99.0th percentile) in period 1 (months 1-4) and >50ng/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