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

Published:November 10, 2022DOI:https://doi.org/10.1016/j.jcf.2022.09.012

      Highlights

      • In 2022, newborn bloodspot screening (NBS) for CF is undertaken in 30 European countries, 26 of them are national programmes.
      • Some programmes are still not achieving ECFS standards. Compared to 2014, there is an improvement in sensitivity but a deterioration in achieving a sufficient PPV.
      • There continues to be a wide variety of approaches, but the majority of national programmes are now using DNA analysis as a 2nd tier
      • This survey demonstrates areas of good practice, but there is considerable scope for improvement in the quality of NBS for CF across Europe.
      • The framework of the 20 parameters to calculate the 8 key outcomes should be part of any annual report of a CF NBS programme, and thus improve future surveys.

      Abstract

      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.

      Keywords

      Abbreviations:

      CF (Cystic Fibrosis), CFSPID (Cystic Fibrosis Screen Positive Inconclusive Diagnosis), DBS (Dried blood spot), DNA (Desoxyribonucleic acid), ECFS (European CF Society), EGA (Extended gene analysis), GSP (GSP Neonatal IRT), IRT (immunoreactive trypsinogen), MI (Meconium ileus), ML (Meconium lactase), NA (Not applicable), NBS (Newborn bloodspot screening), NGS (Next generation sequencing), NR (Not reported), NSWG (Neonatal Screening Working Group), PAP (Pancreatitis associated protein), PPV (Positive predictive value), ST (Sweat test)
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