Newborn screening for Duchenne muscular dystrophy

A few families got in touch who couldn’t make today’s discussion, but who wanted more information on the DMD screening test, as they had heard there had been difficulties with its reliability.

It has been shown to produce a high number of false negatives – so families are informed their child doesn’t have the condition, only to receive a diagnosis some years later.

Annie, I know PPMD are involved in work in the United States and with Dr Stuart Moat to hopefully improve upon the testing protocol. I wondered if you could update the group on some of this work?

And Francesco, Jeanette and Chris – I wondered if you had anything you would like to add on testing procedures and how these could be improved?

When we did the All Party Parliamentary Group for Muscular Dystrophy report on newborn screening, we heard from lots of families like Jeanette and Chris in Wales who felt that early diagnosis was a positive for them. However, we did hear from others who said they would have they would have preferred to find out when their child was older, and that the early diagnosis caused their family problems – for example, difficulties in mother/baby bonding.

To everyone taking part – do you think there could be potential disadvantages associated with neo-natal screening? For example, especially if the diagnosis if mishandled or support isn’t available to the family.

I’ve just spoken with Rachel Salmon – apologies, as the site has experienced some technical difficulties and Rachel wasn’t able to login.

However, she did ask me to share a few points in relation to NBS for DMD:

– screening can play an important role in family planning. The team in Cardiff – as well as MDUK – are aware of families who have gone on to have multiple affected children before becoming aware of the DMD diagnosis
– the first point of contact with families can often be at a community level when a diagnosis is done, which can lead to difficulties if the healthcare professionals are inexperienced with DMD. The diagnosis should be with the specialist team, and can involve home visits (which the team at Cardiff does frequently)
– there is a strong argument in helping to deliver best standards of care. Diagnostic delay is still common in Duchenne, so patients are presenting to specialist teams at a much later stage of deterioration and health.

Rachel has also published research with some of the team at Cardiff on NBS which you can access online.

I think we’ll wrap things up here if we’re okay with that.

Just before we close – Francesco, Jenatte and Chris, are there any final key points that you feel should be shared with the National Screening Committee in considering screening for DMD?

Penny wrote:

But mothers and fathers are able to form bonds with babies who have very obvious disabilities that are immediately visible – is there anything that could be learned from the way in which these families are treated and counselled, or is it pretty much the same?

Thanks Penny – we agree that there are ways we could learn from the support pathways used with other conditions.