The Oxford -Thames Valley-Wessex SMA Newborn Screening Study

Page last updated: 29th March 2025

This research study is now closed to new participants. There are currently no newborn screening for SMA services available in the UK. We do not know of any private newborn screening services. For more information see: Advocacy and Plans for NBS in the UK >

This research study is to see if newborns in the UK can be screened for SMA and therefore start treatment before symptoms develop. The study findings will help with the National Screening Committee’s decision on whether to include SMA as part of the standard UK Newborn Screening.

Who joined the study?

Anyone who was 18 weeks pregnant or whose baby was less that 28 days old, could apply to join this study. Their care had to be be via one of the following centres:

Oxford – Thames Valley

Oxford Trust: John Radcliffe and Horton General Hospital
Buckinghamshire Trust: Stoke Mandeville Hospital and Wycombe Birthing Centre
Berkshire Trust: Royal Berkshire Hospital
Milton Keynes Trust: Milton Keynes University Hospital

Wessex

Princess Anne Hospital (Southampton)
Queen Alexandra Hospital (Portsmouth)
Salisbury District Hospital
University Hospitals Dorset (Poole)

How many babies have been screened so far?

By the end of October 2024, the study had recruited 32,274 participants to the study and screened 29,179 babies. Not all screening results are back as not all the babies whose parents have signed up to the study have been born and tested yet.

For more information contact: sma.newbornscreening@paediatrics.ox.ac.uk

Related Information:

Family Planning For Couples Affected By 5q SMA > – our information guide for couples thinking about having children or who are currently pregnant:

who have had a child with 5q SMA
who know that one or both of them are carriers of 5q SMA
where one or both of them have 5q SMA
where someone in one or both of their extended families has 5q SMA, but they do not know if they are carriers of the condition.