TY - JOUR T1 - Cystic fibrosis newborn screening for R117H in England JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2020.2762 VL - 56 IS - suppl 64 SP - 2762 AU - Carwyn Dafydd AU - Stuart Moat AU - Kevin W. Southern AU - Iolo J.M. Doull Y1 - 2020/09/07 UR - http://erj.ersjournals.com/content/56/suppl_64/2762.abstract N2 - Background: Newborn screening (NBS) for cystic fibrosis (CF) commenced in England in 2007 and includes the variant R117H - either CF disease causing (R117H-5T) or a variant of variable consequence (R117H-7T). Some infants identified through NBS are labelled CF screen positive inconclusive diagnosis (CFSPID). Population studies suggest that the penetrance of R117H is very low.Methods: We abstracted data from the NHS England CF NBS Programme and the UK CF Registry on R117H heterozygotes. We compared the number of infants identified through the NBS Programme with those labelled as CF on the Registry over a similar period. We compared the proportion diagnosed through NBS versus clinical diagnosis, the age at diagnosis (5-year epochs), of those born before 2007 and those born after 2007. We recorded number and age of death in 5-year epochs. We excluded those born in 2007.Results: The Registry identified 253 R117H heterozygotes born before 2007. Most had no poly-T information. 24 were diagnosed through NBS, 101 as children and 127 as adults. After 2009 the NBS programme identified 161 infants heterozygous for R117H, of which 68 were labelled CFSPID. The Registry identified 156 subjects heterozygous for R117H born since 2008, 128 identified through NBS and 28 diagnosed clinically. Overall 14 R117H heterozygotes died, youngest age 25-29 years, oldest 75-79 years, mean age 43.4 years. The NBS programme identified 17.9 infants/yr, the Registry identified 12.8/yr with CF.Conclusions: There is poor characterisation of the poly-T status of R117H heterozygotes. NBS for R117H identifies individuals who would not have been diagnosed clinically, and nearly a third are labelled as CFSPID. The majority of R117H heterozygotes who present clinically are diagnosed in adulthood.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 2762.This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). ER -