More reliable Duchenne newborn screening test developed

Published Date
Peter Sutton
Chris and Alex

Researchers at the University of Cardiff have developed a potentially more reliable method of screening for Duchenne muscular dystrophy in newborn babies. Newborn screening for Duchenne used to be available in Wales – and diagnosed infants such as Alex George (picture with his dad Chris).  

Dr Stuart Moat and Professor Ian Weeks partnered with life sciences company, PerkinElmer, on this study.  The results were published in the scientific journal, Clinical Chemistry.

Whilst further studies are required, these results are an important step towards developing a more accurate process to enable screening for the condition at birth.

Why is newborn screening important?

Currently, the National Screening Committee (NSC) does not recommend screening for Duchenne muscular dystrophy, because of concerns around the accuracy of current testing methods. The NSC also argues there is a lack of evidence on benefits of early treatment with steroids.

However, with new treatments coming through that are anticipated to be more beneficial the earlier they are administered, it’s vital that there is an accurate and reliable process available to diagnose the condition early.

Recently, we launched our new Mental Health Matters project – to push for better psychological support from the point of diagnosis. This would be essential for any screening programme.

Newborn screening for the condition was available in Wales until 2011. However, analysis has shown that the programme missed 20% of cases of Duchenne – and in programmes in other countries the test showed infants to have Duchenne when in fact they did not. This underlines the importance of developing a more reliable method for use in the future.

Some families who were diagnosed in Wales through screening said that they would have preferred to find out later on in their child’s development. However, many families told MDUK they felt the early diagnosis was a positive because:

  • It allowed them to plan for the future – for example, adapting their home early or changing working hours
  • They were able to make informed choices on family planning
  • They were able to bring their child up in the knowledge of his condition – and not push him to do things he wasn’t able to
  • They could access best standards of care at the earliest possible time

What action is MDUK taking?

We are asking you to write to the Director of Programmes for the UK National Screening Committee, Dr Anne Mackie. You can do so using our template letter.

Working with families affected by Duchenne, MDUK is pushing so that newborn screening can be available in the near future. This has included:

Jeanette George, whose son Alex was diagnosed with Duchenne muscular dystrophy through the screening programme in Wales, said:

Having the choice to screen Alex was a positive thing for us. Knowing Alex has Duchenne has allowed us to plan ahead and to manage his symptoms. Alex gets assessed every six months, so any change in his wellbeing will be picked up immediately. I have also been given the opportunity to make the decision to change the direction of my career and to spend more time at home with my son.

Nic Bungay, Director of Campaigns, Care and Information at Muscular Dystrophy UK, said: 

This new test moves us closer to a definitive newborn screening test for Duchenne, which will give families more time to plan for the future. We are hopeful that the rapid improvements in testing will allow the rollout of a national newborn screening programme in the coming years, which will allow for treatments to be delivered to the very young at the earliest possible stage.

Dr Stuart J. Moat, Consultant Clinical Biochemist and Director of the Wales Newborn Screening Laboratory at the University Hospital of Wales, said:

We found that CK-MM can be reliably quantified in blood spots and believe that developing this CK-MM assay on a commercial immunoassay analyser would enable standardized, high-throughput  screening for DMD.

For more information on newborn screening for Duchenne muscular dystrophy, please contact Jonathan Kingsley on or call 020 7803 4839 

Keep in touch
- Enter Your Location -
- or -