Generate QR code
Open Access
Subscription Access
Some defects of the preanalytical stage during neonatal and advanced neonatal screenings in Bashkortostan
https://doi.org/10.25557/2073-7998.2025.05.106-111
Abstract
The results of the analysis of defects in test forms with dry blood spots of newborns sent from medical organizations to the GBUZ RMGTS for neonatal screening (NS) and extended neonatal screening (ENS) are presented. In order to objectify the assessment of defects in test forms and the early detection of congenital and hereditary diseases, an algorithm for interaction with medical organizations during the admission of dry blood stain, for laboratory diagnostics within the framework of NS and ENS, is proposed.
About the Authors
M. V. Panova
Bashkir State Medical University;
Republican Medical and Genetic Center
Russian Federation
Russian Federation
1, Lenina st., Ufa, 480008, Russian Federation
74, Gafuri st., Ufa, 450076, Russian Federation
O. I. Mashkov
Bashkir State Medical University
Russian Federation
Russian Federation
1, Lenina st., Ufa, 480008, Russian Federation
E. A. Timofeeva
Bashkir State Medical University
Russian Federation
Russian Federation
1, Lenina st., Ufa, 480008, Russian Federation
L. Y. Sarbayeva
Republican Medical and Genetic Center
Russian Federation
Russian Federation
74, Gafuri st., Ufa, 450076, Russian Federation
F. S. Bilalov
Bashkir State Medical University;
Republican Medical and Genetic Center
Russian Federation
Russian Federation
1, Lenina st., Ufa, 480008, Russian Federation
74, Gafuri st., Ufa, 450076, Russian Federation
References
1. Voronin S.V., Kutsev S.I. Neonatology: News, Opinions, Training. 2022; 10 (4): 34–9. (In Russ.) DOI: https://doi.org/10.33029/2308-2402-2022-10-4-34-39
2. Neonatal screening: national guidelines. Edited by S.I. Kutsev. 2023. – 360 p. (In Russ.) DOI: 10.3029/9704-7737-3-NEO-2023-1-360.
3. Aliyeva A.K., Huseynova N.T., Mammadova R.F. Topical issues of mass screening for hereditary diseases. Universum: khimiya i biologiya: elektron. nauchn. zhurn. [Universum: Chemistry and Biology: Electronic Scientific Journal]. 2022. 4(94). URL: https://7universum.com/ru/nature/archive/item/13321 (accessed: 03.02.2025)]. (In Russ.)
4. Panova M.V., Bilalov F.S., et al. Organization of the work of the center for orphan diseases: structure, methods, regulatory framework and results of work. Sankt-Peterburg: Stsiyentia [St. Petersburg: Scientia]. 2024: 511p. (In Russ.)
Review
For citations:
Panova M.V., Mashkov O.I., Timofeeva E.A., Sarbayeva L.Y., Bilalov F.S. Some defects of the preanalytical stage during neonatal and advanced neonatal screenings in Bashkortostan. Medical Genetics. 2025;24(5):106-111. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.106-111
Views:
7
Email this article 