Newborn Screening for SMA

Carried out within a few days of birth, the current NHS newborn blood spot (NBS) screening programme supports the early identification, referral and treatment of babies with nine rare but serious conditions. This helps to prevent death or complex and expensive lifelong health challenges. In 2018, newborn screening for SMA was rejected in the UK.

In the last three years, the NHS has revolutionised care for children, young people and adults who have SMA by securing and funding access to three groundbreaking treatments. There is now clear evidence that early diagnosis and treatment of SMA leads to better outcomes. Many countries across the world already have NBS for SMA.

The UK SMA Newborn Screening Alliance - made up of clinicians, patient groups and other stakeholders, chaired and led by Professor Laurent Servais, with Project Manager Alice Fabre - is determined to see this change. SMA UK, in partnership with MDUK, is a key stakeholder. Together we have secured funding for and provide support to the Alliance.

UK SMA NBS Alliance Mission:

To achieve the earliest possible introduction of newborn screening for SMA in the UK to deliver the best outcomes from treatment and reduce future healthcare costs.

For more information, to keep up to date and to get involved:

UK SMA NBS Alliance Website

We are also members of the UK Newborn Screening Collaborative which brings together rare disease groups calling for policy change and increased access to NBS.

Page last updated: July 2022