Newborn bloodspot programme to screen for spinal muscular atrophy

The addition of screening for spinal muscular atrophy to the National Newborm Bloodspot Screening Programme has been approved following a positive recommendation made by the National Screening Advisory Committee to the Minister for Health.

This comes on foot of the publication of a health technology assessment by HIQA into the addition of SMA screening to the programme, which provides the heel prick test for newborns within the first 72 to 120 hours of life.

The HTA was undertaken at the request of NSAC to inform its decision-making. Following a positive recommendation from NSAC, the Minister for Health has approved the addition of SMA to the NNBSP.

SMA is a rare, genetic condition which causes irreversible damage to the nerves that control movement; this leads to muscle wasting and weakness. The severity of SMA and the age at which symptoms present vary, with some forms historically resulting in death in early childhood. There is no known cure, however, HIQA noted that since 2017, new drug treatments have started to become available in Europe which can significantly improve children’s outcomes.

Currently, cases of SMA are only found when symptoms develop or through family history, such as when a sibling has been diagnosed with the condition. Once symptoms of SMA develop, the damage to motor neurons is irreversible. HIQA’s review found that newborn screening can identify children with SMA. This would allow for treatment to start earlier which is expected to improve clinical outcomes.