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

Torresani, Toni; Fingerhut, Ralph; Rueegg, Corina S; Gallati, Sabina; Kuehni, Claudia E; Baumgartner, Matthias R; Barben, Juerg; the Swiss CF Screening Group

doi:10.1016/j.jcf.2013.04.008

Scientific article

English

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

ContributorsTorresani, Toni; Fingerhut, Ralph; Rueegg, Corina S; Gallati, Sabina; Kuehni, Claudia E; Baumgartner, Matthias R; Barben, Juerg; the Swiss CF Screening Group

CollaboratorsBarazzone, Constance; Mornand, Anne; Rochat, Isabelle

Published inJournal of cystic fibrosis, vol. 12, no. 6, p. 667-674

Publication date2013

Abstract

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.

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Research groups

Facteurs influençants le développement pulmonaire: étude translationnelle chez l'animal et l'homme (182)

Citation (ISO format)

TORRESANI, Toni et al. Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study. In: Journal of cystic fibrosis, 2013, vol. 12, n° 6, p. 667–674. doi: 10.1016/j.jcf.2013.04.008

Article (Published version)

Identifiers

PID : unige:41557
DOI : 10.1016/j.jcf.2013.04.008
PMID : 23712087

Journal ISSN1569-1993

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Update14/03/2023 22:13:02

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

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.

Technical informations