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Klin Padiatr. 2017 Mar;229(2):59-66. doi: 10.1055/s-0042-124187. Epub 2017 Apr 25.

[Newborn Screening on Cystic Fibrosis in Germany: Comparison of the new Screening Protocol with an Alternative Protocol].

[Article in German]

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Sektion für Pädiatrische Pneumologie & Allergologie und Mukoviszidose-Zentrum, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg.
Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Dresden.
Dietmar-Hopp-Stoffwechselzentrum, Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg.
Zentrum für Translationale Lungenforschung Heidelberg (TLRC), Deutsches Zentrum für Lungenforschung (DZL), Universitätsklinikum Heidelberg.


Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as third tier to increase the positive predictive value (PPV) which is known to be low in pure biochemical IRT/PAP protocols. Methods For post hoc analysis the data pool (n=372 906) of a study evaluating a pure biochemical IRT/PAP protocol was used for assessment of the 3-step G-BA protocol in comparison with an alternative screening protocol recommended by the authors. The difference between the 2 protocols is the procedure when IRT>99.9th percentile. In the G BA protocol PAP and DNA analysis will be by-passed while in the alternative protocol only the PAP step will be circumvented. Results Both 3-tier IRT/PAP+SN/DNA protocols did not lose sensitivity due to addition of genetic analysis when the results were compared to those of the 2-tier biochemical IRT/PAP protocol. However, the protocols provide different results regarding PPV. The G-BA protocol showed with 351 a much higher number of false-positively detected newborns (PPV 20.2%) when compared to 31 false-positively detected newborns in the alternative protocol (PPV 69.6%). Conclusions The G-BA protocol had a worse performance when compared with the alternative protocol recommended by the authors. The higher number of false-positively detected newborns using the G-BA protocol will lead to more consultations including sweat tests, will create more anxiety in parents, and will result in higher costs after screening.

[Indexed for MEDLINE]

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