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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


Barben, Juerg; Gallati, Sabina; Fingerhut, Ralph; Schoeni, Martin H; Baumgartner, Matthias R; Torresani, Toni (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):332-336.

Abstract

BACKGROUND: 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.
METHODS: IRT was measured using AutoDELFIA Neonatal IRT-Kit in stored NBS cards.
RESULTS: Between 2006 and 2009, 66 children with CF were reported, 4 of which were excluded for various reasons (born in another country, NBS at 6 months, no informed consent). 98% (61/62) had significantly higher IRT compared to matched control group. There was one false negative IRT result in an asymptomatic child with atypical CF (normal pancreatic function and sweat test).
CONCLUSIONS: All children but one with atypical CF would have been detected with the planned two step protocol.

Abstract

BACKGROUND: 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.
METHODS: IRT was measured using AutoDELFIA Neonatal IRT-Kit in stored NBS cards.
RESULTS: Between 2006 and 2009, 66 children with CF were reported, 4 of which were excluded for various reasons (born in another country, NBS at 6 months, no informed consent). 98% (61/62) had significantly higher IRT compared to matched control group. There was one false negative IRT result in an asymptomatic child with atypical CF (normal pancreatic function and sweat test).
CONCLUSIONS: All children but one with atypical CF would have been detected with the planned two step protocol.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2012
Deposited On:13 Feb 2013 16:19
Last Modified:05 Apr 2016 16:29
Publisher:Elsevier
ISSN:1569-1993
Publisher DOI:https://doi.org/10.1016/j.jcf.2012.01.001
PubMed ID:22300503

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