A more accurate method for screening for asymptomatic carriers of SMA in the general population

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Chinese researchers have developed a new technique for screening for heterozygotes for infantile spinal muscular atrophy (SMA):

  • a pilot study was conducted between 2020 and 2025 involving 30,733 individuals from the Chinese province of Hunan, either before pregnancy or in early pregnancy,
  • the SMN1 gene deletion was detected using LNA-based quantitative PCR and then confirmed by MLPA (on only 2,000 samples),
  • the LNA technique had a sensitivity of 100 per cent and a specificity very close to 100 per cent;
  • the rate of healthy carriers in this sample was estimated at 1 in 69 (i.e. 438 individuals) with some regional variations,
  • the few false-positive cases may be linked to two polymorphisms that are particularly prevalent in China,
  • a follow-up study detected 16 foetuses with SMA during prenatal screening carried out on 50 high-risk pregnancies.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals. Shi Q, Liu J, Pan J et al. Clin Chim Acta. 2027 Feb

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