Testing for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) has now commenced through the National Newborn Bloodspot Screening Programme (NNBPS, commonly known as the ‘heel prick test’).
From 13 April, all initial samples received for newborn bloodspot screening have been 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 . . . 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.”
Minister Carroll MacNeill also said the National Screening Advisory Committee (NSAC) is progressing work to consider additional expansions to screening.
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 six to seven babies born with SMA and an estimated one to two 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.”
All babies are offered newborn bloodspot screening, 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 per cent. The NNBSP now screens for 11 conditions, as follows:
The NSAC 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.
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