BACKGROUND: In recent years different IRT/PAP protocols have been evaluated, but the individual performance remains unclear. To optimize the IRT/PAP strategy we compared protocols from three regional CF newborn screening centers (Heidelberg, Dresden, and Prague). METHODS: We evaluated the effect of elevating the IRT-cut-off from 50 to 65 μg/l (~97.5th to ~99.0th percentile), the need of a failsafe protocol (FS, IRT ≥ 99.9th percentile) and the relative performance using either two IRT-dependent PAP-cut-offs or one PAP-cut-off. FINDINGS: Elevation of the IRT cut-off to 65 μg/l (~99.0th percentile) increased the PPV significantly (Dresden: 0.065 vs. 0.080, p < 0.0001, Prague: 0.052 vs. 0.074, p < 0.0001) without reducing sensitivity. All three IRT/PAP protocols showed a trend towards a higher sensitivity with FS than without and when using one PAP-cut-off instead of two IRT-dependent PAP-cut-offs. CONCLUSIONS: For best performance we suggest an IRT/PAP protocol with an IRT-cut-off close to the 99.0th percentile, FS, and a single PAP-cut-off.

Department of Biology and Medical Genetics University Hospital Motol and 2nd Faculty of Medicine Charles University 5 Uvalu 84 Prague 5 CZ 150 06 Czech Republic

Department of Pediatrics University Hospital Kralovske Vinohrady and 3rd Faculty of Medicine Charles University Srobarova 50 Prague 10 CZ 100 34 Czech Republic

Department of Pediatrics University Hospital Motol and 2nd Faculty of Medicine Charles University 5 Uvalu 84 Prague 5 CZ 100 06 Czech Republic

Department of Translational Pulmonology University of Heidelberg Im Neuenheimer Feld 350 D 69120 Heidelberg Germany

Division of Metabolic Diseases and Newborn Screening Center Department of Paediatrics 1 Children's Hospital University of Heidelberg Im Neuenheimer Feld 430 D 69120 Heidelberg Germany

Division of Paediatric Pulmonology and Allergy and Cystic Fibrosis Center Department of Paediatrics 3 Children's Hospital University of Heidelberg Im Neuenheimer Feld 430 D 69120 Heidelberg Germany

Institute of Clinical Chemistry and Laboratory Medicine University Hospital of Dresden Fetscherstr 74 D 01307 Dresden Germany

Pediatric Department University Hospital of Dresden Fetscherstr 74 D 01307 Dresden Germany

Translational Lung Research Centre Heidelberg Im Neuenheimer Feld 350 D 69120 Heidelberg Germany

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$a Sommerburg, Olaf $u Division of Paediatric Pulmonology & Allergy and Cystic Fibrosis Center, Department of Paediatrics III, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany; Translational Lung Research Centre Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany. Electronic address: olaf.sommerburg@med.uni-heidelberg.de.

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$a Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations / $c O. Sommerburg, V. Krulisova, J. Hammermann, M. Lindner, M. Stahl, M. Muckenthaler, D. Kohlmueller, M. Happich, AE. Kulozik, F. Votava, M. Balascakova, V. Skalicka, M. Stopsack, M. Gahr, M. Macek, MA. Mall, GF. Hoffmann,

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$a BACKGROUND: In recent years different IRT/PAP protocols have been evaluated, but the individual performance remains unclear. To optimize the IRT/PAP strategy we compared protocols from three regional CF newborn screening centers (Heidelberg, Dresden, and Prague). METHODS: We evaluated the effect of elevating the IRT-cut-off from 50 to 65 μg/l (~97.5th to ~99.0th percentile), the need of a failsafe protocol (FS, IRT ≥ 99.9th percentile) and the relative performance using either two IRT-dependent PAP-cut-offs or one PAP-cut-off. FINDINGS: Elevation of the IRT cut-off to 65 μg/l (~99.0th percentile) increased the PPV significantly (Dresden: 0.065 vs. 0.080, p < 0.0001, Prague: 0.052 vs. 0.074, p < 0.0001) without reducing sensitivity. All three IRT/PAP protocols showed a trend towards a higher sensitivity with FS than without and when using one PAP-cut-off instead of two IRT-dependent PAP-cut-offs. CONCLUSIONS: For best performance we suggest an IRT/PAP protocol with an IRT-cut-off close to the 99.0th percentile, FS, and a single PAP-cut-off.

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