Minister for Health announces introduction of screening for Severe Combined Immunodeficiency and Spinal Muscular Atrophy
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From: Department of Health
- Published on: 13 April 2026
- Last updated on: 13 April 2026
The Minister for Health Jennifer Carroll MacNeill TD has today announced that testing for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) has now commenced through the National Newborn Bloodspot Screening Programme (heel prick test).
From today (Monday), all initial samples received for newborn bloodspot screening will be tested in the screening laboratory for SCID and SMA, bringing the total number of conditions screened for under the programme to 11.
Minister Carroll MacNeill said:
“The addition of SCID and SMA to the National Newborn Bloodspot Screening Programme is a significant milestone and I know it will be very welcome news for families all over Ireland.
“This programme enables us to detect rare but serious conditions which benefit from early intervention and lead to vastly improved outcomes for children.
“I want to acknowledge the time and expertise invested by staff from the HSE’s National Healthy Childhood Programme, the staff at the National Newborn Bloodspot Screening Laboratory in CHI Temple Street and other areas across the health service in completing what was a complex implementation process supported by my Department.
“I am keenly aware of how difficult it is for parents, families and children who have received a diagnosis of a rare disease, and how challenging daily life can be for them.
“This is why I am committed to the further expansion of screening in Ireland in accordance with internationally accepted criteria and best practice, and in line with our Programme for Government commitments and our goals under the National Rare Disease Strategy, which I published last year.
“Moving forward, I am pleased to confirm that the National Screening Advisory Committee (NSAC) is progressing work to consider additional expansions to screening and I look forward to receiving recommendations from the Committee in due course.”
Dr Abigail Collins, HSE National Clinical Lead, Child Health Public Health, said the development will lead to better outcomes for babies born with SCID and SMA:
“This is a momentous day for the National Newborn Bloodspot Screening Programme, with the addition of SCID and SMA. Screening will help to identify an estimated 6 to 7 babies born with SMA and an estimated 1 to 2 babies born with SCID each year. This early detection allows for earlier treatment, leading to better outcomes for babies with these conditions.”
Welcoming the announcement, the Director of SMA Ireland, Jonathan O’Grady said:
“This is a truly historic day for all the families who have campaigned so tirelessly for the screening of babies born in Ireland for Spinal Muscular Atrophy. The Temple Street laboratory team are to be particularly congratulated for their great efforts to see this test implemented. Early detection is critical with SMA and including it in the heel prick test provides the opportunity of timely intervention, offering a more hopeful outlook for babies and their families.”
Notes to Editor
All babies (between 3 and 5 days old) are offered newborn bloodspot screening (generally known as the ‘heel prick’ test), which currently tests for nine rare but serious conditions that are treatable if detected early in life.
Each year, the NNBSP identifies approximately 130 babies in Ireland with one of the conditions screened for through the programme. The addition of SMA and SCID is expected to increase these numbers.
Participation in the NNBSP in Ireland is high, with an estimated uptake of 99.9%, indicating a considerable degree of confidence in the programme. The NNBSP now screens for 11 conditions, as follows:
- Cystic fibrosis (CF)
- Congenital hypothyroidism (CHT)
- Phenylketonuria (PKU)
- Classical galactosaemia (C Gal)
- Glutaric aciduria type 1 (GA1)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Homocystinuria (HCU)
- Maple syrup urine disease (MSUD)
- Adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID)
- Severe combined immunodeficiency (SCID)
- Spinal muscular atrophy (SMA).
Parents and guardians can find information about screening in the heel prick screening section within the HSE’s mychild.ie website.
The Programme for Government commits to continually reviewing the number of conditions for which babies are screened.
The National Screening Advisory Committee is the independent expert group tasked with considering proposals for new or changes to existing screening programmes. It issues recommendations to the Minister for Health following consideration of evidence reviews or Health Technology Assessments (HTAs) carried out by the Health Information and Quality Authority (HIQA).
In 2025, the National Screening Advisory Committee referred 10 conditions to the Health Information and Quality Authority (HIQA) to undergo evidence review.
The review on the first of these conditions, Congenital Adrenal Hyperplasia (CAH), has already commenced, with a recommendation anticipated to be submitted by NSAC to the Minister for consideration before the end of 2026.