Southampton babies help to shape future of UK newborn screening

Newborn babies in Southampton are being offered the chance to screen for an extra condition during their blood spot test.

Spinal muscular atrophy (SMA) is a rare genetic condition that may result in much better long-term health if it is treated before a person starts to show signs of the disease. New research in the South is inviting women to help trial adding it to the routine blood spot test in the first week of life.

Newborn babies in the UK are routinely checked for a range of conditions, as part of the NHS newborn blood spot test (NBBST), also known as the heel prick or Guthrie test.

The NBBST programme was initiated in the 1960s, with more conditions added over time. The aim of this test is to provide early diagnosis of diseases which may have detrimental effects to the baby if they remain undiagnosed.

The results from this research will help to determine if screening for another condition, SMA, should be added to this test.

Why test newborn babies for SMA?

While the vast majority of babies tested will not have SMA, for those that do, early diagnosis and treatment may be critical.

SMA is a rare genetic disease affecting approximately 1 in every 10,000 babies born. It is caused most often when there are changes within a particular gene, SMN1.

The condition can progressively, and irreversibly, destroy the nerve cells in the brain and spinal cord that control movement. This leads to muscle weakness.

Of those babies affected, it is usually only diagnosed once the child has symptoms such as movement problems. By this point many nerves will have already been damaged.

“New treatments for some types of SMA are now available on the NHS,” Southampton study lead Dr Linden Stocker explains. “If started early, these may be able to protect a baby’s nerves and prevent them from developing symptoms.

“Introducing SMA to the conditions tested for with the NBBST would allow it to be diagnosed and treated before a baby’s nerves are badly damaged.”

Who can take part?

If you are currently over 18 weeks pregnant, over 16 years of age and are planning to give birth at the Princess Anne Hospital, you and your baby are eligible to take part.

This research will use the blood spot collected during your baby’s standard NBBST. No extra samples would need to be taken.

You will be contacted about to tell you the results of your baby’s SMA test. If your baby is found to have SMA, you will be invited to meet with a paediatric neurological specialist at Southampton General Hospital.

For more information, please email NBSSouthampton@uhs.nhs.uk.