Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations Olaf Sommerburg, Veronika Krulisova,

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Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations Olaf Sommerburg, Veronika Krulisova, Jutta Hammermann, Martin Lindner, Mirjam Stahl, Martina Muckenthaler, Dirk Kohlmueller, Margit Happich, Andreas E. Kulozik, Felix Votava, Miroslava Balascakova, Veronika Skalicka, Marina Stopsack, Manfred Gahr, Milan Macek, Marcus A. Mall, Georg F. Hoffmann Journal of Cystic Fibrosis Volume 13, Issue 1, Pages 15-23 (January 2014) DOI: 10.1016/j.jcf.2013.06.003 Copyright © 2013 European Cystic Fibrosis Society. Terms and Conditions

Fig. 1 Overview over the different CF newborn screening protocols originally used in the CF screening centers in Heidelberg, Dresden, and Prague. To assess the quality of the IRT/PAP protocol a DNA testing was implemented as second tier in addition to PAP analysis in Heidelberg (dotted lines). In Prague the nationwide Czech CFNBS using an IRT/DNA/IRT protocol served as quality control (dotted lines). The number of tested CFTR mutations is given in parenthesis for both centers (in Prague number of tested CFTR mutations was changed during the time of the study). In Heidelberg and Dresden the IRT/PAP protocol contained a failsafe strategy (CFNBS positive, if IRT≥99.9th percentile [IRT-cut-off~118–144μg/l in Heidelberg and 143μg/l in Dresden]). In Prague only the IRT/DNA protocol run in parallel contained a failsafe strategy (repeated IRT of 2nd dried blood spot, if first IRT was ≥200μg/l; ~99.9th percentile). Abbreviations: CFNBS — cystic fibrosis newborn screening; P — percentile; neg. — negative; DBS — dried blood spot; rIRT — repeated IRT. Journal of Cystic Fibrosis 2014 13, 15-23DOI: (10.1016/j.jcf.2013.06.003) Copyright © 2013 European Cystic Fibrosis Society. Terms and Conditions

Fig. 2 Newborns with CF-related mutations in the CFTR gene detected in the cohorts from Heidelberg and Prague by the IRT/PAP and IRT/DNA protocols used. Summary of the performance of an IRT/PAP protocol with one PAP cut-off of 1.0μg/l and an IRT/PAP protocol with two IRT-dependent cut-offs (IRT 50.0–99.9μg/l, PAP≥1.8μg/l; IRT≥100μg/l, PAP≥1.0μg/l). Abbreviations: HD — Heidelberg, PR — Prague. Journal of Cystic Fibrosis 2014 13, 15-23DOI: (10.1016/j.jcf.2013.06.003) Copyright © 2013 European Cystic Fibrosis Society. Terms and Conditions