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Scientists at the University of Oxford are running a study at participating hospitals in the Thames Valley and Wessex regions, offering parents the ability to have their newborn baby’s blood tested for Spinal Muscular Atrophy (SMA), in addition to the nine other conditions that are already tested for.

This video shows the difference that early diagnosis of SMA can make. Note: It has no sound.

SMA is a rare genetic condition affecting approximately 1 in 10,000 babies. Early detection and treatment are crucial to its management, as this video of siblings Oscar and Sophia shows. Oscar showed symptoms of SMA at 11 months; his sister Sophia was diagnosed with for SMA at birth. Both receive the same treatment of Nusinersen.

The SMA test requires no additional blood to be taken. As many mums have told us “it’s a no-brainer!”. 

For more information on pre-symptomatic testing of newborns for SMA see: Home - UK SMA Newborn Baby Screening Alliance (

To register your interest in participating please email your contact details to the secure address: and one of the study team will be in touch.

Participating sites in the Thames Valley:

  • Horton Hospital
  • John Radcliffe Hospital
  • Milton Keynes Hospital
  • Royal Berkshire Hospital
  • Stoke Mandeville Hospital
  • Wycombe Hospital

Participating sites in the Wessex region:

  • Poole Hospital
  • Portsmouth Hospital
  • Salisbury Hospital
  • Southampton Hospital

Follow this QR code to watch the video of Oscar and Sophia and see the difference that early diagnosis can make to a child's quality of life.