TY - JOUR
T1 - European survey of newborn bloodspot screening for CF
T2 - opportunity to address challenges and improve performance
AU - Munck, Anne
AU - Berger, Daria O
AU - Southern, Kevin W
AU - Carducci, Carla
AU - de Winter-de Groot, Karin M
AU - Gartner, Silvia
AU - Kashirskaya, Nataliya
AU - Linnane, Barry
AU - Proesmans, Marijke
AU - Sands, Dorota
AU - Sommerburg, Olaf
AU - Castellani, Carlo
AU - Barben, Jürg
AU - European CF Society Neonatal Screening Working Group (ECFS NSWG)
AU - De Wachter, Elke
AU - Regal, Luc
N1 - Funding Information:
The survey was funded by the European CF Society.
Publisher Copyright:
© 2022 European Cystic Fibrosis Society
Copyright:
Copyright 2022 Elsevier B.V., All rights reserved.
PY - 2023/5
Y1 - 2023/5
N2 - BACKGROUND: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance.METHODS: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise.RESULTS: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis.CONCLUSIONS: 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.
AB - BACKGROUND: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance.METHODS: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise.RESULTS: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis.CONCLUSIONS: 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.
UR - http://www.scopus.com/inward/record.url?scp=85141795642&partnerID=8YFLogxK
U2 - 10.1016/j.jcf.2022.09.012
DO - 10.1016/j.jcf.2022.09.012
M3 - Article
C2 - 36372700
SN - 1569-1993
VL - 22
SP - 484
EP - 495
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
IS - 3
ER -