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Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

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,

. 2014 ; 13 (1) : 15-23.

Language English Country Netherlands

Document type Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc14074705

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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$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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$a Hammermann, Jutta $u Pediatric Department, University Hospital of Dresden, Fetscherstr. 74, D-01307 Dresden, Germany.
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$a Stahl, Mirjam $u Division of Paediatric Pulmonology & Allergy and Cystic Fibrosis Center, Department of Paediatrics III, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany; Translational Lung Research Centre Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany.
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$a Muckenthaler, Martina $u Division of Paediatric Pulmonology & Allergy and Cystic Fibrosis Center, Department of Paediatrics III, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany; Translational Lung Research Centre Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany.
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$a Hoffmann, Georg F $u Translational Lung Research Centre Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany; Division of Metabolic Diseases and Newborn Screening Center, Department of Paediatrics I, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.
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