Munck, Anne; Berger, Daria O; 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 (2023). European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance. Journal of cystic fibrosis, 22(3), pp. 484-495. Elsevier 10.1016/j.jcf.2022.09.012
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM) |
Graduate School: |
Graduate School for Health Sciences (GHS) |
UniBE Contributor: |
Berger, Daria Olena |
Subjects: |
600 Technology > 610 Medicine & health 300 Social sciences, sociology & anthropology > 360 Social problems & social services |
ISSN: |
1569-1993 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
16 Nov 2022 07:35 |
Last Modified: |
12 Nov 2023 00:25 |
Publisher DOI: |
10.1016/j.jcf.2022.09.012 |
PubMed ID: |
36372700 |
Additional Information: |
Munck and Berger shared first authorship (equally contributing). |
Uncontrolled Keywords: |
CFSPID, carriers CFTR gene analysis Cystic fibrosis IRT Newborn bloodspot screening PAP |
BORIS DOI: |
10.48350/174740 |
URI: |
https://boris.unibe.ch/id/eprint/174740 |
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