| |  Online-Ressource |
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| Verfasst von: | Sommerburg, Olaf [VerfasserIn]  |
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| | Stahl, Mirjam [VerfasserIn] |
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| | Hämmerling, Susanne Hedwig [VerfasserIn] |
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| | Gramer, Gwendolyn [VerfasserIn] |
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| | Muckenthaler, Martina [VerfasserIn] |
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| | Okun, Jürgen G. [VerfasserIn] |
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| | Kohlmüller, Dirk [VerfasserIn] |
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| | Happich, Margit [VerfasserIn] |
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| | Kulozik, Andreas [VerfasserIn] |
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| | Mall, Marcus A. [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| Titel: | Final results of the southwest German pilot study on cystic fibrosis newborn screening |
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| Titelzusatz: | evaluation of an IRT/PAP protocol with IRT-dependent safety net |
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| Verf.angabe: | Olaf Sommerburg, Mirjam Stahl, Susanne Hämmerling, Gwendolyn Gramer, Martina U. Muckenthaler, Jürgen Okun, Dirk Kohlmüller, Margit Happich, Andreas E. Kulozik, Marcus A. Mall, Georg F. Hoffmann |
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| Jahr: | 2022 |
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| Umfang: | 12 S. |
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| Fussnoten: | Available online 9 November 2021 ; Gesehen am 24.08.2022 |
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| Titel Quelle: | Enthalten in: Journal of cystic fibrosis |
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| Ort Quelle: | Amsterdam [u.a.] : Elsevier Science, 2002 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 21(2022), 3 vom: Mai, Seite 422-433 |
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| ISSN Quelle: | 1873-5010 |
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| Abstract: | Background - Previous studies suggest that PAP-based CF protocols are suitable for newborn screening (NBS) for cystic fibrosis (CF) when newborns designated as CFSPID should not be detected. However, there are still discussions about the performance of IRT/PAP algorithms. We present the final results of a pilot study evaluating a IRT/PAP protocol with an IRT-dependent safety net (SN) conducted from 2008 to 2016 in southwestern Germany on nearly 500,000 newborns. - Methods - To achieve reliable data, all newborns were screened using both the PAP-based and a DNA-based CFNBS algorithm. PAP quantification and genetic analysis of the four most common CFTR mutations in Germany were performed in all newborns with IRT≥99.0 percentile. NBS was rated positive if either PAP was ≥1.6 µg/l and/or at least one CFTR mutation was detected. In addition, an IRT-dependent SN resulted in positive rating for both protocols if IRT was ≥99.9 percentile. To evaluate the IRT/PAP protocol, its performance was compared to that of the IRT/DNA protocol. - Results - The IRT/PAP protocol with IRT-based SN used in the study achieved a sensitivity of 94%, if false-negative detected neonates with meconium ileus and those designated as CFSPID were excluded from analysis. CF/CFSPID ratio was 92. However, PPV of the IRT/PAP+SN protocol was with 10.3% very low. - Conclusions - PAP-based CFNBS protocols can be used, if less detection of CFSPID is desired. The IRT/PAP protocol with IRT-dependent SN evaluated here achieved adequate sensitivity but should probably be used in combination with a third-tier test to also achieve an acceptable PPV. |
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| DOI: | doi:10.1016/j.jcf.2021.10.007 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1016/j.jcf.2021.10.007 |
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| | Volltext: https://www.sciencedirect.com/science/article/pii/S1569199321021093 |
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| | DOI: https://doi.org/10.1016/j.jcf.2021.10.007 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Biochemical screening |
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| | Cystic fibrosis (CF) |
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| | Genetic testing |
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| | Immuno reactive trypsinogene (IRT) |
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| | Newborn screening (NBS) |
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| | Pancreatitis associated protein (PAP) |
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| K10plus-PPN: | 1815100532 |
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| Verknüpfungen: | → Zeitschrift |
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Final results of the southwest German pilot study on cystic fibrosis newborn screening / Sommerburg, Olaf [VerfasserIn]; 2022 (Online-Ressource)
