Congenital Anomalies (Malformations), Deformities and Chromosomal Abnormalities in the Russian Federation in 2022–2024

Introduction: Congenital anomalies (malformations), deformities and chromosomal abnormalities represent a major health care challenge.

Objective: To study the incidence of congenital anomalies (malformations), deformities and chromosomal abnormalities (ICD-10 codes Q00–Q99) in the Russian Federation.

Materials and Methods: We analyzed data from the Federal Statistical Observation Form No. 12, Information on the number of diseases registered in patients living in the service area of a health facility, for the years 2022 to 2024 using Microsoft Excel. Information from the new Russian regions was not taken into account. Statistical and analytical methods of research were applied.

Results: In 2022–2024, the rate of newly diagnosed congenital anomalies (malformations), deformities and chromosomal abnormalities in Russia decreased by 0.23 %, while the rate of all detected disorders increased by 8.3 %. The incidence of congenital ichthyosis decreased by 20.0 % and that of neurofibromatosis stabilized. The prevalence of congenital ichthyosis and neurofibromatosis increased by 4.5 % and 21.43 %, respectively. An increase in the incidence rate of congenital malformations was typical for most federal districts; a decrease in the incidence of congenital ichthyosis was typical for almost all federal districts, with the exception of the Northwestern and Volga districts, where the rates stabilized at the level of the year 2022 at 0.4 and 0.5 per 100,000 population, respectively. The prevalence of congenital ichthyosis increased in almost all federal districts, with the exception of the North Caucasus Federal District where a decrease by 27.5 % was registered.

Conclusions: In 2022–2024, the average Russian rate of newly diagnosed cases of congenital anomalies (malformations), deformities, chromosomal abnormalities and the incidence of congenital ichthyosis decreased by 0.23 % while the prevalence of all congenital malformations increased by 8.3 %. The incidence of congenital ichthyosis decreased by 20.0 % and that of neurofibromatosis stabilized, whereas the prevalence increased by 4.6 % and 21.4 %, respectively.

1. Agarkov NM, Churnosov MI, Osipova OA, et al. Effect of anthropogenic atmospheric pollutants on the prevalence of congenital malformations in newborns. Rossiyskiy Vestnik Perinatologii i Pediatrii. 2020;65(6):34-41. (In Russ.) doi: 10.21508/1027-4065-2020-65-6-34-41

2. Bannikova LP. Assessment of risk factors for the formation of congenital malformations in children. Orenburgskiy Meditsinskiy Vestnik. 2024;12(2(46)):57-63. (In Russ.)

3. Konovalov OE, Geraskin AI, Pak VI. Prevalence of congenital anomalies, deformations and chromosomal disorders among the children’s population of Moscow. Sovremennye Problemy Zdravookhraneniya i Meditsinskoy Statistiki. 2025;(3):385-399. (In Russ.) doi: 10.24412/2312-2935-2025-3-385-399

4. Antonov OV, Shirinsky VA, Antonova IV. Hygienic risk factors of congenital malformations. Gigiena i Sanitariya. 2008;(5):20-22. (In Russ.)

5. Antonova IV, Bogacheva EV, Kitayeva YuYu. Role of exogenous factors in malformations forming. Ekologiya Cheloveka. 2010;(6):30-35. (In Russ.)

6. Bachina AV, Gromov KG, Glebova LA. Monitoring behind congenital developmental anomalies at children as indicative indicator externally environmental influence on health of the population of the Kemerovo region. Zdorov’e Naseleniya i Sreda Obitaniya. 2013;(7(244)):17-19. (In Russ.)

7. Aydinov GT, Marchenko BI, Sinelnikova YuA. Results of the monitoring of congenital malformations in children in the Rostov region. Gigiena i Sanitariya. 2017;96(11):1064-1069. (In Russ.)

8. Kasimovskaya NA, Shatova EA. Congenital cleft lip and palate in children: Prevalence rate in Russia and worldwide, risk factors. Voprosy Sovremennoy Pediatrii. 2020;19(2):142-145. (In Russ.) doi: 10.15690/vsp.v19i2.2107

9. Oleynikova TA. Analysis of the incidence of congenital anomalies in the federal districts of Russia. Regional’nyy Vestnik. 2020;(17(56)):13-14. (In Russ.)

10. Mirsaitova GT, Khamitova RYa. Congenital anomalies of the child population and chemical pollution. Zdorov’e Naseleniya i Sreda Obitaniya. 2013;(2(239)):9-11. (In Russ.)

11. Demikova NS, Podolnaya MA, Lapina AS. Analysis of the congenital malformations epidemiology in the regions of the Russian Federation. Meditsinskaya Genetika. 2020;19(7):31-32. (In Russ.) doi: 10.25557/2073-7998.2020.07.31-32

12. Bannikova LP, Efremov VM, Suslov PV. Congenital malformations of children as an informative criterion of the ecological state of atmospheric air in Chelyabinsk. Nepreryvnoe Meditsinskoe Obrazovanie i Nauka. 2021;16(1):8-12. (In Russ.)

13. Vdovenko IA, Setko NP, Konstantinova OD. Ecological problems of reproductive health. Gigiena i Sanitariya. 2013;92(4):24-28. (In Russ.)

14. Bannikova LP, Valeullina NN. Environmental factors and their influence on the formation of congenital malformations in children. Nepreryvnoe Meditsinskoe Obrazovanie i Nauka. 2021;16(3):3-10. (In Russ.)

15. Popova AYu. Strategic priorities of the Russian Federation in the field of ecology from the position of preservation of health of the nation. Zdorov’e Naseleniya i Sreda Obitaniya. 2014;(2(251)):4-7. (In Russ.)

16. Astrakhantseva MA, Kiku PF, Voronin SV, Sukhova AV. Prevention and diagnosis of congenital malformations. Zdravookhranenie Rossiyskoy Federatsii. 2021;65(3):230-237. (In Russ.) doi: 10.47470/0044-197X-2021-65-3-230-237

17. Kosimov MM, Vohidov A. Impact of environmental factors on the formation of congenital developmental malformations. Mat’ i Ditya. 2023;(4):78-83. (In Russ.)

18. Tumanova UN, Shuvalova MP, Schegolev AI. Analysis of statistical indicators of congenital anomalies as causes of early neonatal death in the Russian Federation. Rossiyskiy Vestnik Perinatologii i Pediatrii. 2018;63(6): 60-67. (In Russ.) doi: 10.21508/10274065-2018-63-5-60-67

19. Oleynikova TA. [Analysis of the dynamics of the incidence rates of congenital malformations in Russia.] Regional’nyy Vestnik. 2020;(15(54)):13-14. (In Russ.)

20. Kasikhina EI, Potekaev NN, Zhukova OV, Ivanova MA. Incidence of cutaneous mastocytosis and skin malformations among the pediatric population of Moscow City. Sovremennye Problemy Zdravookhraneniya i Meditsinskoy Statistiki. 2024;(1):52-64. (In Russ.) doi: 10.24412/2312-2935-2024-1-1-52-64

21. Kasikhina EI, Potekaev NN, Ivanova MA, et al. Clinical and epidemiological features of cutaneous mastocytosis among the pediatric population of Moscow. Rossiyskiy Allergologicheskiy Zhurnal. 2024;21(1):74-81. (In Russ.) doi: 10.36691/RJA16906

22. Demikova NS, Podolnaya MA, Lapina AS. Mother’s age as a risk factor of birth defects. Rossiyskiy Vestnik Perinatologii i Pediatrii. 2020;65(2):34-39. (In Russ.) doi: 10.21508/1027-4065-2020-65-2-34-39