SMA Screening in Latvia Can Diagnose Babies Within 2 Weeks of Birth

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A newborn screening program for spinal muscular atrophy (SMA) in Latvia can diagnose babies within two weeks of birth, according to a new study.

The study, “New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study,” was published in the International Journal of Neonatal Screening.

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As new treatments have become available over the last several years, there has been an increasing push to implement newborn screening (NBS) for SMA. The screening involves testing babies for SMA as soon as they are born by checking their DNA for disease-causing mutations. In theory, this means babies can be diagnosed and start treatment as early as possible, which ultimately is tied to better long-term outcomes.

“The aim of this study was to conduct a pilot study for the first DNA-based NBS in Latvia,” the researchers wrote.

During the study, conducted throughout 2021, the researchers analyzed blood samples from 10,411 babies. The team noted that participation in NBS increased over time as awareness increased, from less than 100 samples processed in the first month to more than 1,000 in the final month.

When the NBS program was starting up, it could take up to 17 days after a sample arrived at the laboratory before the baby’s family got results. However, as the program progressed, the median turnaround time was reduced to about 11 days.

“When a NBS sample is taken 48 to 72 h after birth and transported to the laboratory within two working days after collection, according to legal requirements, DNA test results can be reported to healthcare professionals before the 12th day of life,” the researchers wrote.

In 40 cases, a second sample was needed for re-analysis, either due to issues with the original sample or errors in the laboratory.

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Of all the children screened in the program, two tested positive for SMA-causing mutations. Subsequent tests confirmed the diagnosis. One of these babies was able to start on SMA treatment prior to showing any signs or symptoms of the disease.

So far, no false-negatives have been reported among the remaining babies who tested negative in the program.

“Expansion of our SMA … NBS procedure to the whole of Latvia is feasible and would facilitate early diagnosis and result in more effective treatment,” the researchers concluded. They strongly recommended SMA screening in national programs.