Published in

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

DOI: 10.1016/j.jcf.2013.04.008

Links

Tools

Export citation

Search in Google Scholar

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

Journal article published in 2013 by Toni Torresani, Ralph Fingerhut, Corina S. Rueegg ORCID, Sabina Gallati, Claudia E. Kuehni, Matthias R. Baumgartner ORCID, Juerg Barben
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.

Full text: Unavailable

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
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