Early diagnosis made possible through pioneering newborn screening
The first baby in Scotland to be identified with Spinal Muscular Atrophy (SMA) through the country’s newborn screening programme has started treatment following an early diagnosis, marking a significant milestone for the pioneering initiative.
The baby was tested at just five days old through Scotland’s national in-service evaluation of SMA screening and, following a positive result, was rapidly referred to specialist services to begin treatment before symptoms developed.
SMA is a rare genetic condition that causes progressive muscle weakness and wasting. It can affect movement, breathing and swallowing, and symptoms can develop rapidly in infancy. However, when treatment begins before symptoms appear, outcomes can be significantly improved.
The in-service evaluation of newborn screening for SMA, which launched across Scotland in March 2026, is the first of its kind in the UK. All babies born in Scotland are now offered SMA screening as part of the routine newborn blood spot test. Testing is carried out by the Scottish Newborn Screening Laboratory based at the Queen Elizabeth University Hospital campus in Glasgow. The in-service evaluation was introduced to gather scientific evidence to allow the UK National Screening Committee to determine whether SMA screening should be introduced permanently to the newborn bloodspot screening programme. The new test identifies babies with SMA before symptoms develop, allowing treatment to begin as early as possible.
Dr Sarah Smith, Consultant Clinical Scientist and Director of the Scottish Newborn Screening Laboratory, said: “This is exactly why the in-service evaluation of newborn screening for SMA was introduced. Identifying a baby before symptoms develop gives clinical teams the opportunity to act quickly and begin treatment at the earliest possible stage.
“While SMA remains a rare condition, this milestone demonstrates the real-life impact screening can have for babies and families across Scotland. Early diagnosis offers the best possible chance of improved outcomes and highlights the value of this important national programme.”
Dr Iain Horrocks, Consultant Paediatric Neurologist, NHS Greater Glasgow and Clyde, said: “This baby was identified through screening at just five days of age and was able to access specialist care and treatment before symptoms had developed.
“For babies with SMA, early treatment can dramatically alter the course of the condition and improve future health and development. This diagnosis was made possible through newborn screening and has given this child the best possible opportunity for a healthier future.”
Minister for Public Health Maree Todd, said: “I’m really proud that Scotland became the first country in the UK to start the evaluation of SMA screening, supported by Scottish Government and Novartis funding.
“Early screening means SMA can be detected and treated before symptoms develop, profoundly improving quality of life, both for babies and their families. I want to place on record my thanks to the Scottish Newborn Screening Laboratory, hosted by NHS GGC, for the work they are doing and I look forward to seeing the results of this transformational programme.”
This first diagnosis and treatment through Scotland’s SMA screening in-service evaluation marks an important milestone for babies and families across the country. It demonstrates the real-world impact of newborn screening, enabling babies with SMA to be identified before symptoms develop and access potentially life-changing treatment at the earliest opportunity.
