Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.
Details
Serval ID
serval:BIB_8DF944B53B7E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.
Journal
Journal of Cystic Fibrosis
Working group(s)
Swiss CF Screening Group
Contributor(s)
Barazzone C., Casaulta C., Mornand A., Eng P., Hafen G., Hammer J., Möller A., Müller D., Regamey N., Rochat I., Schiller B., Schöni MH., Spinas R., Spalinger J., Trachsel D., Zanolari M.
ISSN
1569-1993; 1873-5010 (Electronic)
ISSN-L
1569-1993
Publication state
Published
Issued date
12/2013
Peer-reviewed
Oui
Volume
12
Number
6
Pages
667-674
Language
english
Abstract
BACKGROUND: 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.
METHODS: IRT cut-offs were >45 ng/ml (99.0th percentile) in period 1 (months 1-4) and >50 ng/ml (99.2nd percentile) in period 2 (months 5-12). In period 2 we abstained from recalls when none of the 7 most common CF mutations were detected and IRT was <60 ng/ml.
RESULTS: In periods 1 and 2, 26,535 and 56,663 tests were performed. Recall rates were 0.94% and 0.48%, respectively (p<0.001), PPV increased from 23% to 47% (p=0.024) and sensitivity was 90% and 100%.
CONCLUSIONS: Raising initial IRT cut-off from the 99.0th to the 99.2nd percentile and abstaining from recalls for children with an IRT<60 ng/ml and carrying no major CFTR mutation significantly reduced the recall rate without affecting sensitivity.
METHODS: IRT cut-offs were >45 ng/ml (99.0th percentile) in period 1 (months 1-4) and >50 ng/ml (99.2nd percentile) in period 2 (months 5-12). In period 2 we abstained from recalls when none of the 7 most common CF mutations were detected and IRT was <60 ng/ml.
RESULTS: In periods 1 and 2, 26,535 and 56,663 tests were performed. Recall rates were 0.94% and 0.48%, respectively (p<0.001), PPV increased from 23% to 47% (p=0.024) and sensitivity was 90% and 100%.
CONCLUSIONS: Raising initial IRT cut-off from the 99.0th to the 99.2nd percentile and abstaining from recalls for children with an IRT<60 ng/ml and carrying no major CFTR mutation significantly reduced the recall rate without affecting sensitivity.
Keywords
Algorithms, Cystic Fibrosis/genetics, Cystic Fibrosis/prevention & control, Cystic Fibrosis Transmembrane Conductance Regulator/genetics, DNA Mutational Analysis, Humans, Infant, Newborn, Neonatal Screening, Pilot Projects, Sensitivity and Specificity, Sweat/chemistry, Switzerland, Trypsinogen/blood
Pubmed
Web of science
Open Access
Yes
Create date
13/12/2013 15:08
Last modification date
20/08/2019 15:51
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