European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.

Anne Munck,Daria O Berger,Kevin W Southern,Carla Carducci,Karin M de Winter-de Groot,Silvia Gartner,Nataliya Kashirskaya,Barry Linnane,Marijke Proesmans,Dorota Sands,Olaf Sommerburg,Carlo Castellani,Jürg Barben

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society（2022）

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摘要

Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.

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关键词

CFSPID, carriers,CFTR gene analysis,Cystic fibrosis,IRT,Newborn bloodspot screening,PAP

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