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Pilot selective screening and its advantages for early diagnostic of Duchenne/Becker muscular dystrophy in children of the second year of life
https://doi.org/10.25557/2073-7998.2025.05.23-26
Abstract
Introduction. Early diagnosis and prevention play a key role in providing primary care to patients with hereditary diseases. However, not all diseases for various reasons, including severe neuromuscular pathology – Duchenne/Becker muscular dystrophy (DMD/BMD), can be detected today in the neonatal period in the Russian Federation.
Aim: to test the system of two-stage screening of DMD/BMD in children of the 2nd year of life in St. Petersburg for further implementation in the healthcare system of the city of St. Petersburg.
Methods. Venous blood samples from 1878 boys were studied step by step using the following methods: IFCC, MLPA, СMA.
Results. In 2024, 4 patients with pathogenic variants in the DMD gene were identified – 1 patient as a part of the screening system and 3 patients due to the orphan alertness of doctors and the inclusion of these patients in the pilot program.
Conclusions. The preliminary results of the pilot screening of the examined patients confirm the prospect of the proposed two-stage screening program for the early diagnosis of Duchenne/Becker muscular dystrophy.
Supporting agencies: The study was supported by the National Association «Genetics».
About the Authors
A. A. Atsapkina
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
A. V. Kiselev
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
M. A. Maretina
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
Yu. P. Maretina
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
Zh. N. Tumasova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
O. V. Malysheva
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
N. M. Dvoynova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
I. B. Sosnina
Saint Petersburg City Consultative and Diagnostic Center for Children
Russian Federation
Russian Federation
36, building 2, Aleksa Dundić st., St. Petersburg, 192289, Russian Federation
E. V. Snegova
Saint Petersburg City Consultative and Diagnostic Center for Children
Russian Federation
Russian Federation
36, building 2, Aleksa Dundić st., St. Petersburg, 192289, Russian Federation
O. A. Klimenkova
Saint Petersburg City Consultative and Diagnostic Center for Children
Russian Federation
Russian Federation
36, building 2, Aleksa Dundić st., St. Petersburg, 192289, Russian Federation
Yu. A. Nasikhova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
O. S. Glotov
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
O. N. Bespalova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
I. Yu. Kogan
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
A. S. Glotov
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, St. Petersburg, 199034, Russian Federation
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Review
For citations:
Atsapkina A.A., Kiselev A.V., Maretina M.A., Maretina Yu.P., Tumasova Zh.N., Malysheva O.V., Dvoynova N.M., Sosnina I.B., Snegova E.V., Klimenkova O.A., Nasikhova Yu.A., Glotov O.S., Bespalova O.N., Kogan I.Yu., Glotov A.S. Pilot selective screening and its advantages for early diagnostic of Duchenne/Becker muscular dystrophy in children of the second year of life. Medical Genetics. 2025;24(5):23-26. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.23-26
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