Hospital joins national newborn screening project for SMA

The Robert Jones and Agnes Hunt Orthopaedic Hospital (RJAH) is involved in the NHS project of newborn screening for spinal muscular atrophy (SMA)..

It began in England on October 1, 2026 and aims to identify babies at risk of SMA through the routine newborn blood spot test, commonly known as the heel-prick test.

SMA is a rare inherited condition that affects the nerves controlling muscle movement and causes progressive muscle weakness.

Early identification is critical, as treatment is most effective before symptoms appear.

Professor Tracey Willis, consultant paediatric neurologist at RJAH, said: "This is a major step forward for babies and families affected by spinal muscular atrophy.

"With SMA, every day matters.

"Screening gives us the opportunity to identify babies who may have SMA before symptoms develop and connect them quickly with specialist assessment and, where appropriate, treatment.

"At RJAH, we are working closely with colleagues across the West Midlands and the national SMA REACH UK team to ensure there is a safe, responsive pathway in place for any baby referred to us.

"Our teams are proud to be contributing their specialist expertise to this important national evaluation."

The in-service evaluation is being rolled out through seven newborn screening laboratories across England.

The first laboratory, based in Birmingham, began screening on October 1, 2026 and covers families in the West Midlands.

The remaining six laboratories are expected to join the programme from October 2027, eventually offering SMA screening to every newborn in England.

RJAH is working in partnership with Birmingham Heartlands Hospital to deliver the specialist clinical pathway for babies in the West Midlands who screen positive for SMA.

Depending on where a baby is born, the appropriate specialist team will arrange an urgent assessment, confirmatory testing, and discuss potential treatment and ongoing care options with the family.

The evaluation will assess whether SMA screening is feasible, acceptable, effective, and cost-effective within the NHS.

Its findings will inform a future recommendation by the UK National Screening Committee on whether and how SMA screening should continue as part of the NHS Newborn Blood Spot Screening Programme.

Parents in participating areas will be informed about SMA screening when their baby receives the routine blood spot test, usually at around five days old.

With parental consent, the same blood sample will also be tested for SMA, requiring no additional heel-prick.

Families with questions are encouraged to speak to their midwife or maternity care team.

Louie Myatt, from Cannock, came under Professor Willis’ care after eight weeks of age and received early treatment, including gene therapy.

Now 17 months old, he is making good progress.

His mother, Maria O’Malley, said: "Louie is a happy little boy, and early detection of his condition has enabled him to have the best possible chance of continuing to thrive."