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

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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