Scotland starts newborn screening for SMA
Lucy Batizovsky | March 26, 2026 | News story | | Novartis, Scotland, spinal muscular atrophy (SMA)
As part of a two-year evaluation funded by the Scottish government and Novartis, Scotland will screen newborn babies for Spinal Muscular Atrophy (SMA) from 23 March 2026.
Scotland will offer all parents SMA screening for their newborns as part of the routine blood spot test carried around four days after birth, the first part of the UK to do so.
The two-year evaluation will assess how well SMA screening can detect the condition early, with early detection allowing for babies to receive treatment as soon as possible.
Affecting on average three to four babies in Scotland each year, SMA is a rare condition which causes progressive muscle wastage and impacts movement, breathing and swallowing.
SMA UK charity CEO Giles Lomax said: “This milestone represents an important step forward for the SMA community.
“With all three treatments now routinely available through NHS Scotland alongside newborn screening, the future for anyone diagnosed with SMA is very different compared to their peers who were diagnosed symptomatically.
“These babies will now have the opportunity to grow up without life-long health care needs and the complexity and challenges of living with SMA.”
If a positive case is found, the newborn screening laboratory at the Queen Elizabeth University Hospital, Glasgow, will notify a paediatrician immediately.
The process is expected to take less than one week from initial screening to diagnosis, with families to be contacted and consultation arrangements made within 48 hours of a positive laboratory test result.
After diagnosis, there are established clinical pathways in place and three disease-modifying therapies approved for use in Scotland.
NHS Greater Glasgow and Clyde’s Consultant Clinical Scientist and Director of the screening laboratory Dr Sarah Smith said: “We are working closely with the UK National Screening Committee and other UK laboratories to assess the screen in a real life setting.
“Our staff have worked tirelessly to begin screening as quickly as possible so we can start to understand the impact that earlier treatment may have on babies born with this condition.”
Before this, diagnosis and testing only began when symptoms started showing, but early pre-symptomatic treatment offers the best chance for a child to follow typical developmental pathways and achieve key developmental milestones.
Health Secretary Neil Gray said: “I thank SMA UK and local campaigners who have worked so hard to highlight this issue and Novartis for its funding.
“By detecting SMA before symptoms develop, screening could allow earlier treatment which could be life-changing and help secure the best possible care and support for babies and families.”
Novartis provided £435,400 towards the SMA screening evaluation, with The Scottish Government providing £95,000.
Findings from this evaluation will be used by the UK National Screening Committee to decide on whether SMA screening should be permanently included in the national newborn screening programme.
UK and Ireland Chief Medical Officer at Novartis Rob Hastings said: “Early identification of SMA can make a meaningful difference to children and their families, and we are confident Scotland’s participation will provide the evidence needed to make SMA a long term screening programme.”
Receiving around 50,000 dried blood spot samples from newborn babies each year, the Scottish Newborn Screening Laboratory tests for ten conditions, including Cystic Fibrosis, Congenital Hypothyroidism and Sickle Cell Disorders.
Scottish Director of Screening Dr Tasmin Sommerfield said: “I am delighted that Scotland is following the advice of the UK National Screening Committee and commencing this in-service evaluation of SMA screening.
“It will allow babies with SMA to receive the best care and treatment as soon as possible.”
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