Published in
Elsevier, Journal of Cystic Fibrosis, 4(11), p. 332-336, 2012
DOI: 10.1016/j.jcf.2012.01.001
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Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland
Journal article published in 2012 by
Juerg Barben,
Sabina Gallati,
Ralph Fingerhut,
Martin H. Schoeni,
Matthias R. Baumgartner 
,
Toni Torresani,
Swiss Cf Screening Group
,
Toni Torresani,
Swiss Cf Screening Group
This paper is made freely available by the publisher.
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Abstract
Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries. This retrospective study was conducted to evaluate whether the planned two step CF NBS with immunoreactive trypsinogen (IRT) and 7 CFTR mutations would have detected all clinically diagnosed children with CF in Switzerland.