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Majority of U.S. Newborns Now Screened for SMA

Posted on September 07, 2021
Medically reviewed by
Amit M. Shelat, D.O.
Article written by
Torrey Kim

Eighty-five percent of infants born in the United States are now screened for spinal muscular atrophy (SMA), thanks to adoption of new screening guidelines in 38 U.S. states.

Researchers have long understood that early detection of SMA in infants can help people with the condition prevent motor neuron loss, even before symptoms of SMA develop. However, the U.S. lacked clear direction on newborn screenings for SMA prior to 2018. That year, the government’s Recommended Uniform Screening Panel (RUSP) added SMA to its list of recommended tests to screen newborns for certain illnesses. Each state can make a determination of which conditions to include in its routine infant-screening tests. Over the past three-year period, 38 states have adopted the recommendation and begun testing for SMA at birth.

SMA is the top genetic cause of death among infants, but early diagnosis can give those with the condition earlier access to treatments that may allow them to prevent the loss of motor neurons. Newborns with SMA type 1 lose about 90 percent of their motor neurons before they reach 6 months of age. Lost neurons cannot be replaced nor regenerated, underscoring the importance of early detection.

When the U.S. Health Resources and Services Administration initially made its recommendation for states to screen for SMA, the agency projected that early detection could:

  • Find about 364 babies with SMA each year
  • Prevent between 16 and 100 children with SMA Type 1 from requiring a ventilator each year
  • Prevent between 14 and 68 deaths from SMA Type 1 each year

Although the statewide screening programs are relatively new, the tests have already identified a number of babies that may otherwise not have been identified as having SMA until they began showing symptoms. During the first year of Florida’s screening program, for example, health care providers identified approximately 30 babies with SMA. Organizations such as Cure SMA are continuing to encourage the remaining states to add SMA screenings to their newborn testing programs.

Read more about diagnosing, treating, and managing SMA.

All updates must be accompanied by text or a picture.
Amit M. Shelat, D.O. is a fellow of the American Academy of Neurology and the American College of Physicians. Review provided by VeriMed Healthcare Network. Learn more about him here.
Torrey Kim is a freelance writer with MyHealthTeam. Learn more about her here.

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