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Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg
Anton Kiselev1, Marianna Maretina1, Sofia Shtykalova1
1Department of Genomic Medicine Named after V.S. Baranov, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Insights
Newborn screening for spinal muscular atrophy (SMA) in Saint Petersburg identified an incidence of 1 in 9035. Early diagnosis through newborn screening enables timely treatment for infants with SMA, improving outcomes.
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a common inherited neuromuscular disease and a leading genetic cause of infant mortality.
- SMA is caused by homozygous deletion of exon 7 in the SMN1 gene.
- Early treatment of pre-symptomatic infants with SMA can significantly improve motor function.
Purpose of the Study:
- To implement and evaluate a newborn screening (NBS) program for SMA in Saint Petersburg.
- To determine the incidence of SMA and carrier frequency within the screened population.
- To assess the feasibility of using real-time PCR on dried blood spots for SMA NBS.
Main Methods:
- A real-time PCR assay using dried blood spots (DBS) was employed for SMA screening.
- 36,140 newborns were screened between January 2022 and November 2022.
- Homozygous deletion carriers were confirmed using alternate methods, and SMN2 copy number was determined.
Main Results:
- The incidence of SMA in Saint Petersburg was determined to be 1 in 9035.
- The SMA carrier frequency was found to be 1 in 47.
- Four newborns screened positive for homozygous SMN1 deletion; two had 2 copies of SMN2, and two had 3 copies.
Conclusions:
- Newborn screening for SMA is effective in identifying affected infants and carriers.
- Integrating SMN1 and SMN2 analysis into NBS algorithms aids in clinical follow-up and family testing.
- Early diagnosis and intervention are crucial for improving outcomes in infants with SMA.
Abstract:
Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS) for SMA using a real-time PCR assay with dried blood spots (DBS) was performed from January 2022 through November 2022 in Saint Petersburg, which is a representative Russian megapolis. Here, 36,140 newborns were screened by the GenomeX real-time PCR-based screening test, and three genotypes were identified: homozygous deletion carriers (4 newborns), heterozygous carriers (772 newborns), and wild-type individuals (35,364 newborns). The disease status of all four newborns that screened positive for the homozygous SMN1 deletion was confirmed by alternate methods. Two of the newborns had two copies of SMN2, and two of the newborns had three copies. We determined the incidence of spinal muscular atrophy in Saint Petersburg to be 1 in 9035 and the SMA carrier frequency to be 1 in 47. In conclusion, providing timely information regarding SMN1, confirmation of disease status, and SMN2 copy number as part of the SMA newborn-screening algorithm can significantly improve clinical follow-up, testing of family members, and treatment of patients with SMA.
