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 and Schöni, Martin Heinrich

ISSN:

1569-1993

Publisher:

Elsevier

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:24

Last Modified:

17 Mar 2015 21:04

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)

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