TY - JOUR T1 - Should the D1152H variant be included in cystic fibrosis newborn screening programmes? JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2020.2761 VL - 56 IS - suppl 64 SP - 2761 AU - Carwyn Dafydd AU - Kevin W. Southern AU - Stuart Moat AU - Iolo J.M. Doull Y1 - 2020/09/07 UR - http://erj.ersjournals.com/content/56/suppl_64/2761.abstract N2 - Background: Newborn screening (NBS) for cystic fibrosis (CF) commenced in England in 2007 and includes the variant of variable consequence D1152H. The natural history of those heterozygous for D1152H is unclear. Some identified through NBS are labelled CF screen positive inconclusive diagnosis (CFSPID).Methods: We abstracted data from the NHS England CF NBS Programme and the UK CF Registry on individuals heterozygous for D1152H. We compared the number of infants identified through the NBS Programme with the number labelled as CF on the Registry over a similar period. We compared the proportion diagnosed through NBS versus clinical diagnosis, and 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 46 subjects heterozygous for D1152H born before 2007. 2 were diagnosed through NBS, 6 as children and 38 as adults. From 2009 the NBS programme identified 28 D1152H heterozygotes (mean 3.1/year), with 11 labelled CFSPID. The Registry identified 34 subjects born since 2008 with CF heterozygous for D1152H, 24 identified through NBS and 10 diagnosed clinically. Overall 4 subjects with D1152H died, 2 were aged 55-59 years, 1 aged 65-69 years and 1 aged 80-84 years. Assuming 3 infants/year through NBS and mean age of death of 66.25, it is likely that there are at least 200 individuals in England heterozygous for D1152H.Conclusions: NBS for D1152H identifies individuals who would not have been diagnosed clinically. The vast majority of those with CF and heterozygous for D1152H are diagnosed in adulthood. The value of D1152H NBS is questionnable.FootnotesCite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 2761.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 -