lunes, 3 de junio de 2013

Newborn screening for cystic fibrosis in Switz... [J Cyst Fibros. 2013] - PubMed - NCBI

Newborn screening for cystic fibrosis in Switz... [J Cyst Fibros. 2013] - PubMed - NCBI

J Cyst Fibros. 2013 May 24. pii: S1569-1993(13)00067-2. doi: 10.1016/j.jcf.2013.04.008. [Epub ahead of print]

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


Swiss Newborn Screening Laboratory, University Children's Hospital, Zürich, Switzerland.



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.


IRT cut-offs were >45ng/ml (99.0th percentile) in period 1 (months 1-4) and >50ng/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 <60ng ml.="" p="">


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="" 100="" 23="" 47="" 90="" and="" from="" increased="" p="" ppv="" sensitivity="" to="" was="">


Raising initial IRT cut-off from the 99.0th to the 99.2nd percentile and abstaining from recalls for children with an IRT<60ng affecting="" and="" carrying="" cftr="" major="" ml="" mutation="" no="" p="" rate="" recall="" reduced="" sensitivity.="" significantly="" the="" without="">Copyright © 2013 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.


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