European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
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.
Copyright © 2022 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
Overview publication
| Title | European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance. |
| Date | 2023-05-01 |
| Issue name | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society |
| Issue number | v22.3:484-495 |
| DOI | 10.1016/j.jcf.2022.09.012 |
| PubMed | 36372700 |
| Authors | |
| Info | European CF Society Neonatal Screening Working Group (ECFS NSWG), Renner S, Zeyda M, de Wachter E, Regal L, Votava F, Holubova A, Skov M, Morgan T, Bregeaut P, O'Grady L, Bucci I, Pantano S, Simonetti S, De Venuto D, Salvatore D, Perrotti N, Caloiero M, Castaldo G, Tosco A, Righetti F, Pisi G, Battistini F, Angeloni A, Cimino G, Fiocchi G, Angiolillo A, Cassanello M, Alberti L, Claut LE, Badolato R, Pavanello E, Fabrizzi B, Bignamini E, Cardillo A, Lombardo M, Cocciadiferro L, Termini L, Dolce D, Terlizzi V, Tamanini A, Pauro F, la Marca G, Aleksejeva E, Gaidule-Logina D, Fustik S, Anastasovska V, Bouva M, Reid A, Cundick J, Lundman E, Bakkeheim E, Zybert K, Oltarzewski M, Vilarinho L, Sherman V, Kondratyeva E, Smith S, Dautovic GV, Knapkova M, Mydlova Z, López RM, Velasco V, Flores FD, Mejeras CC, Pedersen ES, Ozcelik U, Karadag B, Makukh H, Stuart M |
| Keywords | CFSPID, carriers, CFTR gene analysis, Cystic fibrosis, IRT, Newborn bloodspot screening, PAP |
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