Newborn babies in England will now be tested for spinal muscular atrophy (SMA) as part of a national trial that begins today (Thursday, October 1), following a campaign by former Little Mix singer Jesy Nelson.
The trial will see newborn babies tested for SMA, a condition affecting Nelson’s twins, with a rollout across England. It will examine whether adding SMA to the established blood spot test programme for newborns makes a difference to care, collecting evidence on how screening works in practice.
How the trial works
Among the things being examined is how quickly babies can be referred for specialist help, before the UK National Screening Committee looks at whether to make it a permanent part of the blood spot test programme.
The newborn blood spot (formerly known as the heel prick) test currently checks to see if babies have any of 10 rare conditions, some of which can be life-threatening. Around 60 to 70 babies born in England every year are affected by SMA.
Symptoms of SMA include muscle weakness, leading to difficulty moving, breathing and swallowing. Treatments work best when begun as soon as possible.
Impact of screening
According to research, screening across England could prevent around three early deaths, stop around two babies needing permanent ventilation and enable around 37 babies with SMA to live largely normal lives each year.
Back in August, Jesy’s daughters, Ocean Jade and Story Monroe, underwent an operation to have their nasogastric feeding tubes removed. They both have Type 1 SMA, which begins in babies under six-months-old.
Announcing their diagnosis in January, Jesy noted that her children are unlikely to be able to walk or gain neck strength. She has since been campaigning for the condition to be added to the newborn blood spot screening test.
Rollout schedule
A new laboratory will join the programme roughly every two months at intervals between now and October 2027 under the rollout. The first phase of the rollout includes Birmingham on Thursday, followed by Manchester, South West Thames, South East Thames, Great Ormond Street Hospital and Sheffield.
Six further laboratories will then be added in Portsmouth, Oxford, Cambridge, Bristol, Leeds and Liverpool. The goal of the trial is for all babies born in England to be offered SMA screening by spring 2028.
Louise Parkes, chief executive at Great Ormond Street Hospital Charity, said: “This is a hugely important moment for babies and families. The start of national rollout of newborn screening for spinal muscular atrophy means more babies will be diagnosed before symptoms appear, giving them the best chance of accessing effective treatment before irreversible damage is done.
“This change follows years of tireless campaigning by the SMA community and shows what can be achieved when advances in treatment are matched by earlier diagnosis. For families affected by SMA, this rollout has the potential to change the course of their child’s condition.
“But we should also learn from the journey it has taken to get here. As science and treatments continue to advance, we need a newborn screening system that can respond at pace when there is strong evidence that earlier diagnosis could transform a child’s life.”
Andy Fletcher, chief executive of Muscular Dystrophy UK, noted that babies in Wales and Northern Ireland would be left behind if they too did not introduce a programme. Scotland has already begun screening.
He explained: “We must not forget that every baby matters. It’s simply not acceptable that a postcode lottery exists in the UK. Babies with SMA in Wales and Northern Ireland deserve the same chance of early diagnosis.”
NHS response
Dr Harrison Carter, director of screening at NHS England, added: “This is a potentially life-changing moment for parents in Birmingham, whose babies will be the first to benefit from spinal muscular atrophy screening on the NHS.
“We know that catching the condition before a baby has developed symptoms gives them the best chance of benefiting from NHS treatments. It can help prevent the severe muscle weakness caused by the condition and give children the best chance of reaching important milestones, such as sitting, walking and breathing independently.
“But this is just the start. The NHS is fast-tracking the rollout of this programme, bringing screening laboratories on board at pace so that, by 2028, every baby born in England will be offered this important advance in newborn screening.”
SMA UK chief executive Giles Lomax stated: “After years of campaigning by the community, it is incredibly powerful to see this work becoming a reality and I would like to say thank you to everyone for making this come to fruition, including the laboratory staff that have worked tirelessly.
“Thousands of babies each year will have the opportunity to be diagnosed earlier and access life-changing treatment before irreversible damage occurs. This is a significant step forward for families affected by SMA, and a moment the whole community can be proud of.”
