The ISE is proving of huge value in helping to determine the optimum way to screen for SCID.ĭuring the past year, the NHSE-led ISE team has been reviewing the data to change the way in which positive results are calculated. Evaluation improves screening pathway and addresses important questions The testing process has been more complicated and difficult than expected, so the extension of the ISE also gives more time for new approaches to be tested. The ISE is being extended to collect more data because fewer babies with SCID have been detected than had been anticipated.

While around half of the babies referred did not have any problems with their immune system on further testing, some were found to have other immunological conditions causing low white blood cell counts.

Two of the 10 had already been identified because members of their family were affected, so the remaining 8 were diagnosed early thanks to screening. The NHS invites and screens for SCID around two-thirds of the newborn population of England in the areas covered by the ISE.Īn estimated 635,000 babies were screened for SCID during the first 21 months of the evaluation (6 September 2021 to ).Īs a result, 399 babies were referred with abnormal results. SCID could become the tenth NBS condition if results from the ISE reassure the UK NSC that screening does more good than harm at reasonable cost. The NHS NBS Screening Programme currently tests for 9 rare but serious conditions and provides life-changing benefits for children who are identified and treated before these conditions can cause irreversible damage. Wednesday, 28 June, marks International Neonatal Screening Day, celebrating the birthday of microbiologist Dr Robert Guthrie, who introduced the paper blood spot card and a newborn screening test for phenylketonuria (PKU) in the 1960s.ĭr Guthrie’s work revolutionised the early asymptomatic detection of treatable rare conditions and laid the foundation for newborn blood spot (NBS) screening programmes worldwide. Life-changing benefits of newborn screening Without screening, the remaining affected babies are usually diagnosed only when they become ill. Without bone marrow transplant treatment, babies with SCID usually die before they are a year old, and treatment is more likely to be successful if SCID is detected early.Ībout a third of babies with SCID are diagnosed because another member of their family has the condition. SCID is the name for a group of rare conditions that affect the immune system and make it very hard for babies to fight off common infections. NHSE and the DHSC have agreed to extend the evaluation until the end of March 2024, rather than September 2023 as originally planned.

What results from scid