Newborns to be Screened for Spinal Muscular Atrophy Through Genetic Testing.
Newborns across the Maritimes will now be screened for spinal muscular atrophy (SMA), through a genetic test added to the Maritime Newborn Screening program.
The screening, done at birth, will provide early diagnosis and access to care sooner for infants with the disorder.
“While there is no cure for spinal muscular atrophy, it doesn’t mean families should have to wait until they notice something is wrong before they get the help they need,” said Health and Wellness Minister Michelle Thompson. “Screening for this condition at birth allows children to receive treatment sooner and families to receive counselling to better manage this life-long condition.”
The screening program expansion, which took effect Monday, August 19, is a partnership between the Province, the Maritime Newborn Screening program and Muscular Dystrophy Canada.
Muscular Dystrophy Canada committed $420,000 for equipment, training and validation work to begin screening for SMA, a genetic condition that leads to muscle weakness. It affects three to four newborns in the Maritimes each year. It is now one of 24 conditions covered by the screening program.
Spinal muscular atrophy testing supports the government’s commitment to precision medicine, which provides healthcare teams with information to understand conditions better and to support and guide early treatment.
Quotes:
“While our child was diagnosed with SMA after birth, I can’t stress enough the value of an early diagnosis. It could have meant a quicker path to specialist care and approved therapies that enhance long-term outcomes and help preserve motor function and muscle strength. Newborn screening is a game-changer for families like ours, providing hope and a better future for children with SMA.”
— Tanya Brown, parent, Halifax
“With the Maritimes now joining the rest of Canada in screening for SMA, infants and families in these provinces will have equitable access to early detection, possibly even before the onset of symptoms. We commend the Maritime Newborn Screening program and the Government of Nova Scotia for their collaboration and recognition of the critical importance of early diagnosis for a rare neuromuscular condition. Timely access to treatments and appropriate supports from the very beginning is life-changing – detecting SMA at birth can significantly improve the quality of life and lead to transformative long-term outcomes for children with SMA, providing them with the best possible start in life.”
— Stacey Lintern, CEO, Muscular Dystrophy Canada
“The expansion of the newborn screening program means babies born in the Maritimes can be diagnosed earlier, receive treatment sooner and have better health outcomes later in life. This investment is advancing the future of medicine and patient care in our region.”
— Lee Anne Boutilier, Manager of Clinical Genomics and lead, IWK Maritime Centre for Precision Medicine
Quick Facts:
- the government invested about $300,000 in Budget 2024-25 to add the newborn screening of spinal muscular atrophy to the Maritime Newborn Screening program
- the program is operated out of IWK Health and covers Nova Scotia, New Brunswick and Prince Edward Island
- the program screens about 16,000 children annually, with about 8,000 of them from Nova Scotia
Additional Resources:
Maritime Newborn Screening program: https://iwkhealth.ca/maritime-newborn-screening-program
Source : Provincial Release
