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

Barben, Juerg; Gallati, Sabina; Fingerhut, Ralph; Schoeni, Martin H; Baumgartner, Matthias R; Torresani, Toni; SWISS CF SCREENING GROUP, (2012). 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 of cystic fibrosis, 11(4), pp. 332-6. Amsterdam: Elsevier 10.1016/j.jcf.2012.01.001

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Gallati, Sabina, Schöni, Martin Heinrich
ISSN:	1569-1993
Publisher:	Elsevier
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:24
Last Modified:	05 Dec 2022 14:07
Publisher DOI:	10.1016/j.jcf.2012.01.001
PubMed ID:	22300503
Web of Science ID:	000306632200012
URI:	https://boris.unibe.ch/id/eprint/8342 (FactScience: 213868)