- •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.
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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