The in-service evaluation (ISE) of newborn screening for spinal muscular atrophy (SMA) is under way in NHS services in England.
From 1 October 2026, babies born in maternity units across the West Midlands are being tested for SMA, a rare but serious genetic condition that affects approximately 1 in 10,000 babies. SMA is being added to the serious conditions that newborn babies are already screened for using the routine newborn blood spot (NBS) screening test.
The UK National Screening Committee (UK NSC) recommended an ISE to assess the feasibility and effectiveness of adding SMA to the NBS screening programme in the long term. ISEs are used to test a change in screening policy if evidence gaps can only be reasonably filled by data collection and evaluation in a live NHS setting. Data from the evaluation will help inform a definitive UK NSC recommendation on whether and how to continue newborn screening for SMA.
After its launch in the Birmingham NBS screening laboratory, the ISE will be rolled out in phases to the 6 other English regional laboratories already participating in the ISE of screening for severe combined immunodeficiency (SCID). The government’s ambition is for the roll-out to then extend to the country’s remaining 6 regional laboratories so that all babies born in England will be offered SMA screening as part of the ISE.
The aim of screening will be to help identify SMA before symptoms develop. When SMA is detected early, babies can be referred promptly for clinical assessment and treatment, which can significantly improve outcomes. Evidence suggests that introducing SMA screening throughout England could, each year, prevent around 3 early deaths, prevent around 2 babies from needing permanent ventilation, prevent around 30 babies from being confined to sitting, and enable around 37 babies to live largely normal lives.
NHS England is updating all its national NBS screening information for professionals and the public to cover the introduction of screening for SMA.
The NBS screening e-learning module on NHSE elfh Hub now includes information about SMA screening. Targeted training sessions are being delivered in advance of the ISE rollout in each screening laboratory to maternity units and staff. Details of these sessions will be shared through existing communication routes.
In addition, SMA UK is launching a campaign, SpotSMA, to raise awareness of the symptoms of the condition among health professionals.
Meanwhile, the Screening tests for you and your baby information is being updated for all parents and there will be a new leaflet for parents of babies who screen positive for SMA.
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seen at 11:34, 1 October in UK National Screening Committee.