Newborn SMA screening starts in Birmingham ahead of England-wide rollout

Newborn screening for spinal muscular atrophy (SMA) has begun in England, with the first lab in Birmingham processing heel-prick blood spots. The test is being added to the existing newborn blood spot programme, which already checks for 10 other conditions. The Birmingham lab is the first of six across England to start routine screening for SMA, and results are available within a day.

The rollout will expand over the next two years. By October 2028, all newborn babies in England are expected to be tested. A clinical trial is due to begin next month, and the current study will be gradually rolled out to selected hospitals in its first year, starting in Birmingham, before being extended across England. Its results will be monitored over five years to see the impact of testing and whether savings offset the cost of screening.

The change follows a campaign led by former Little Mix star Jesy Nelson, whose twin daughters were diagnosed with SMA after symptoms appeared. She said she will feel heartbroken for the rest of her life. Her experience helped push for SMA to be added to the UK newborn heel-prick test. Professor Laurent Servais has wanted SMA testing in the UK for years after success in other countries. He said SMA can cause loss of sitting, walking, breathing and swallowing, and the most severe form can kill a child within months if untreated. Early diagnosis and treatment before symptoms are critical because once symptoms show, damage has been done and quality of life has been lost.

Families described the difference early testing can make. Teddy, aged two, was signed up to a pilot screening study in 2023 while he was in hospital. Early testing diagnosed him with a rare form of SMA. His parents said his life prospects could have been very different without it. Casey's son Chester was diagnosed at five months old after she had been back and forth to doctors 26 times. Those delays mean he will not be able to sit up without help. He might have been walking and running with his sister by now if he had been diagnosed early enough to start medication or gene therapy. Casey said there have been times the family nearly lost Chester.

The charity SMA UK says the test will save the NHS money. Care plans alone can cost upwards of £450,000, not including treatment. A heel-prick test costs £4.50, and the charity says those care costs are far higher than anything from a screening programme. Around 48 families in the UK receive an SMA diagnosis each year. The West Midlands screens about 65,000 babies a year and expects to pick up six to seven cases. Scotland began routine testing in March and has already identified and treated one case. Campaigners want Wales and Northern Ireland to follow. The numbers may be small, but the suffering is almost entirely preventable.

The test uses a small heel prick blood spot, processed in the same way as existing newborn screening. The hope is that more children get early intervention so they can thrive, like Teddy, who is being treated.