Optimization of performance of Dutch newborn screening for cystic fibrosis

MJ Bouva,JE Dankert-Roelse, CPB van der Ploeg,RK Verschoof-Puite,DD Zomer-van Ommen,JJP Gille,BS Jakobs,MLA Heijnen,KM de Winter-de Groot

Journal of Cystic Fibrosis（2023）

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摘要

•Until 2016, Dutch NBS for CF, as implemented in 2011, showed a sensitivity of 90%.•In 2016, NBS for CF algorithm was modified, resulting in a sensitivity of 95%.•Sensitivity improved by changing PAP cut-off values.•Costs per screened child and PPV did not change substantially.•With every twelve CF patients Dutch NBS refers one CRMS/CFSPID and three carriers.

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关键词

Cystic fibrosis,Newborn screening,PAP,IRT,DNA,Bloodspot,DBS, The Netherlands

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