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The experience of conducting the confirmation stage of the NBS at SMA 5q in the reference center in 2023–2024
https://doi.org/10.25557/2073-7998.2025.04.20-24
Abstract
Since 2023, the Russian Federation (RF) has been conducting newborn screening (NBS) for 36 hereditary diseases, including spinal muscular atrophy 5q (SMA 5q). As a result of expanded neonatal screening in 2023-2024, the total incidence of SMA 5q was 1 in 8,439 newborns.
Supporting agencies: The study was carried out under the state assignment of the Ministry of Science and Higher Education for the Research Centre for Medical Genetics
About the Authors
M. A. Akhkiamova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Maria A. Akhkiamova
1, Moskvorechie st., Moscow, 115522
A. V. Marakhonov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
S. V. Voronin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
S. I. Kutsev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
K. A. Mikhalchuk
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
S. I. Braslavskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
A. L. Chukhrova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
N. V. Ryadninskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
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For citations:
Akhkiamova M.A., Marakhonov A.V., Polyakov A.V., Voronin S.V., Kutsev S.I., Mikhalchuk K.A., Braslavskaya S.I., Chukhrova A.L., Ryadninskaya N.V., Shchagina O.A. The experience of conducting the confirmation stage of the NBS at SMA 5q in the reference center in 2023–2024. Medical Genetics. 2025;24(4):20-24. (In Russ.) https://doi.org/10.25557/2073-7998.2025.04.20-24
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