Pregnant Thames Valley women encouraged to take part in UK’s first newborn baby screening trial to detect rare muscle-wasting condition.

Every five days a baby in the UK is born with spinal muscular atrophy (SMA).

The UK’s first pilot study of newborn screening to detect it within days of birth will recruit people who are receiving maternity care from Oxford University Hospitals NHS Trust and other hospitals in the Thames Valley.

The study, designed by Professor Laurent Servais and his team, will be run at the MDUK Oxford Neuromuscular Centre. 

Treatments for SMA are available now and, if delivered at birth, provide these babies with the best chance of living long and healthy lives.

Despite this, SMA is not routinely detected before or at birth in the UK, as it is in nearly all the US, in Germany, Poland, Belgium, Australia, among others.

By the time an infant starts showing symptoms and receives a diagnosis of SMA, most have already lost a significant proportion of their nerve function. 

It is hoped the study will pave the way for a national newborn screening programme in the UK.

Screening will be undertaken through the routine UK newborn blood spot screening pathway using spare capacity from a dried blood spot sample, known as a Guthrie card.

Professor Servais said: “Today, in the UK, we are not screening our children for SMA even though we know how it works and we know how to use it. This must change and we are proud to be driving this change.”

Pregnant women who are interested in taking part in the study should speak with their obstetrics team.