Newborns to be tested for Spinal Muscular Atrophy

by Rose Barrett
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Newborn in hospital

Minister for Health, Stephen Donnelly has asked the HSE to add Spinal Muscular Atrophy (SMA) to the National Newborn Bloodspot Screening Programme. The move follows a recommendation from the National Screening Advisory Committee (NSAC).

The National Newborn Bloodspot Screening (NBS) Programme is operated by the HSE and focuses on the early identification of serious medical conditions in babies along with appropriate interventions to reduce mortality and/or morbidity. The HSE National Newborn Bloodspot Screening Programme offers screening to all newborn babies when they are between three and five days old and currently tests for nine rare but serious conditions.

SMA is a rare but serious genetic neuromuscular disorder which can be divided into five identifiable subtypes based on the typical age of onset, clinical severity and achieved motor milestones. Without treatment, the severity between the different SMA subtypes ranges from being fatal or causing serious permanent disabilities in childhood to having less severe symptoms that might emerge later in life. Cases of SMA are more likely to be severe than mild, with over 50% of cases being classified as subtype 1.

The estimated prevalence of diagnosed SMA in Ireland is low, on average less than seven children are born with the condition each year. When implemented, medical services will screen for SMA as part of what is commonly known as the ‘heel prick’ test in Ireland.

Minister Donnelly said:  “Expansion of newborn screening remains a priority for me as Minister and indeed this Government. I am pleased to approve the recommendation received from the National Screening Advisory Committee to add Spinal Muscular Atrophy to the National Newborn Bloodspot Screening (NBS) Programme.

“As Minister, I understand the impact these rare but serious conditions have on children and their families. Screening is one step which can significantly improve the outcomes for children and is why I have been consistent in my support for expanding the National Newborn Bloodspot Screening Programme since assuming office.

“I would like to thank the members of the Committee for their consideration of the evidence contained in a comprehensive Health Technology Assessment, produced by HIQA. These considerations included balancing a range of complex factors in reaching a recommendation.

“I have written to the HSE, requesting that they commence implementation planning for the introduction of SMA into the NBS programme. This process will require a number of important steps being taken and will take some time to undertake in order to ensure that once introduced, screening for SMA will be underpinned by robust quality assurance systems and structures.”

International evidence suggests that earlier identification and treatment for SMA results in better clinical outcomes for children. In the absence of screening, children with subtypes 1 and 2 SMA are typically identified after missing key motor milestones (sitting/walking). However, at this point, children have suffered irreparable motor neuron damage. The early identification of infants with SMA through screening can play an important role in mitigating such harms.

The NSAC is currently seeking expressions of interest for five expert roles on the Committee in the areas of Epidemiology, Ethics, Public Voice, Health Economics and Obstetrics. Further information on how to apply for these roles can be found on via the following link.

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