Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg

• Published in: International journal of neonatal screening Vol. 10; no. 1; p. 9
• Main Authors: Kiselev, Anton, Maretina, Marianna, Shtykalova, Sofia, Al-Hilal, Haya, Maslyanyuk, Natalia, Plokhih, Mariya, Serebryakova, Elena, Frolova, Marina, Shved, Natalia, Krylova, Nadezhda, Il'ina, Arina, Freund, Svetlana, Osinovskaya, Natalia, Sultanov, Iskender, Egorova, Anna, Lobenskaya, Anastasia, Koroteev, Alexander, Sosnina, Irina, Gorelik, Yulia, Bespalova, Olesya, Baranov, Vladislav, Kogan, Igor, Glotov, Andrey
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.01.2024
• Subjects: Atrophy; Consent; dried blood spots; FDA approval; Galactosemia; Gene therapy; Genes; Genetic testing; Health aspects; Infants; Infants (Newborn); Life expectancy; Medical screening; Mutation; newborn screening; Patient outcomes; Proteins; Reagents; real-time PCR; SMN1; SMN2; Spinal muscular atrophy; Russia; United States > US; SMN2; carrier frequency; SMA incidence; spinal muscular atrophy; SMN1; real-time PCR; newborn screening; dried blood spots
• ISSN: 2409-515X; 2409-515X
• DOI: 10.3390/ijns10010009

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 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 deletion was confirmed by alternate methods. Two of the newborns had two copies of , 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 , confirmation of disease status, and 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.