Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
J E Dankert-RoelseP H Verkerk

Abstract

Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy. Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net. Only samples with two CFTR-variants were considered screen-positive, but samples with one disease-causing variant were considered also screen-positive from April 2013. The first 5 years of NBSCF were evaluated during a follow-up ranging from 2 to 6.8 years for sensitivity, specificity, positive predictive value (PPV), ratio of CF/Cystic Fibrosis Screen Positive infants with an Inconclusive Diagnosis (CFSPID) and median age at diagnosis, and were compared to other novel strategies for NBSCF and European Cystic Fibrosis Society (ECFS) Best Practice Standards of Care. NBSCF achieved a sensitivity of 90% (95% CI 82%-94%), specificity of 99.991% (95% CI 99.989%-99.993%), PPV of 63% (95% CI 55%-69%), CF/CFSPID ratio of 4/1, and median age at diagnosis of 22 days, if samples with two variants as well as samples with one disease-causing variant were considered screen-positive. The program achieved the goal to min...Continue Reading

Citations

Aug 30, 2020·Archives of Disease in Childhood·Iolo DoullStuart J Moat
Oct 20, 2020·International Journal of Neonatal Screening·Virginie ScotetPhilip M Farrell
Oct 20, 2020·International Journal of Neonatal Screening·Anne BergougnouxEmmanuelle Girodon
Oct 20, 2020·International Journal of Neonatal Screening·Graham SinclairHilary Vallance
Oct 20, 2020·International Journal of Neonatal Screening·Olaf Sommerburg, Jutta Hammermann
Jan 17, 2021·Postgraduate Medical Journal·Hannah FarleyWilliam Flight
Feb 15, 2020·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Hamed HoratiBob J Scholte
Jan 29, 2021·Frontiers in Pediatrics·Andrea M Coverstone, Thomas W Ferkol
Feb 10, 2021·International Journal of Neonatal Screening·Graham SinclairHilary Vallance
Feb 10, 2021·International Journal of Neonatal Screening·Virginie ScotetPhilip M Farrell
Feb 10, 2021·International Journal of Neonatal Screening·Anne BergougnouxEmmanuelle Girodon
Feb 10, 2021·International Journal of Neonatal Screening·Olaf Sommerburg, Jutta Hammermann
Jan 13, 2022·Anesthesia and Analgesia·Amy J LeeDebnath Chatterjee

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