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

BORIS DOI
Publisher DOI
PubMed ID
36372700
Description
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.
Date of Publication
2023-05
Publication Type
article
Subject(s)
600 - Technology::610 - Medicine & health
300 - Social sciences, sociology & anthropology::360 - Social problems & social services
Keyword(s)
CFSPID
•
carriers CFTR gene analysis Cystic fibrosis IRT Newborn bloodspot screening PAP
Language(s)
en
Contributor(s)
Munck, Anne
Southern, Kevin W
Carducci, Carla
de Winter-de Groot, Karin M
Gartner, Silvia
Kashirskaya, Nataliya
Linnane, Barry
Proesmans, Marijke
Sands, Dorota
Sommerburg, Olaf
Castellani, Carlo
Barben, Jürg
Additional Credits
Institut für Sozial- und Präventivmedizin (ISPM)
Series
Journal of cystic fibrosis
Publisher
Elsevier
ISSN
1569-1993
Access(Rights)
open.access
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