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.
Details
Serval ID
serval:BIB_9C299FB41C8F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
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
Journal of Cystic Fibrosis
Working group(s)
SWISS CF SCREENING GROUP
ISSN
1873-5010 (Electronic)
ISSN-L
1569-1993
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
11
Number
4
Pages
332-336
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Validation StudiesPublication Status: ppublish. Gaudenz Hafen fait partie du SWISS CF SCREENING GROUP.
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.
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.
Keywords
Algorithms, Child, Preschool, Cystic Fibrosis/diagnosis, Cystic Fibrosis/genetics, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, Dried Blood Spot Testing/standards, Female, Humans, Infant, Infant, Newborn, Male, Neonatal Screening/standards, Reproducibility of Results, Retrospective Studies, Switzerland, Trypsinogen/blood
Pubmed
Web of science
Open Access
Yes
Create date
13/12/2012 11:47
Last modification date
20/08/2019 16:02
Usage data
