Dynamics of the incidence of congenital malformations in children in Chelyabinsk based on the results of epidemiological monitoring in 2012–2017

Congenital malformations are not only a medical, but also a serious social problem, since this pathology is a leading cause of perinatal, neonatal, and infant morbidity, disability, and mortality.
Purpose. To analyze the variation dynamics in the incidence of groups of congenital malformations, the structure of congenital malformations according to the average incidence, and the consistency of changes in the incidence of individual groups of congenital anomalies in children of Chelyabinsk based on the results of epidemiological monitoring in 2012–2017.
Material and methods. To assess the frequencies of congenital malformations, we used the monitoring data of the Regional Medical
and Genetic Consultation Office in Chelyabinsk for the period from 2012 to 2017, for Down syndrome (T21) from 2012 to 2018. The total number of newborns over the six-year period was 102,308, of which 2101 children were registered with congenital malformations, including live-born, stillborn children, and fetuses with malformations identified through prenatal diagnostics. Clinical data on newborns was grouped into 11 congenital malformations categories based on the International Classification of Diseases. The statistical analysis of the monitoring results was carried out using methods of descriptive statistics, samples comparisons, correlation, and cluster analysis.
Results. The incidence of all registered congenital malformations in newborns in Chelyabinsk was 20.7 per 1000 births (95% CI: 17.4–25.4) during the study period. In newborns of the Chelyabinsk city in 2012–2017, the prevalence of congenital malformations of the circulatory system (42.8%), chromosomal abnormalities (11.9%), and anomalies of the musculoskeletal system (10.3%) was observed. The relative frequency of Down syndrome for the period from 2012 to 2018 ranged from 1.51‰ to 2.42‰, considering both children born with this pathology and the data on prenatal diagnostics.
Conclusion. The hierarchy of congenital malformations was reproduced from year to year with a predominance of circulatory anomalies, chromosomal anomalies, and musculoskeletal anomalies of the system. The overall incidence of all congenital malformations in Chelyabinsk in 2012–2017 does not exceed the average values for the Russian Federation, while the incidence of Down syndrome exceeded the average national level.

1. Zhuchenko L.A., Tamazjan G.V. Diagnostics of congenital malformations in the system of complex measures aimed at protecting the health of the child population. Rossijskij vestnik akushera-ginekologa 2010; 10(2): 7–9. (in Russ.)

2. International statistical classification of diseases and related health problems (Obstetrics, Gynecology and Perinatology). 10-th revision. Genève: World Health Organization, 2005; 268. (in Russ.)

3. Sokal R.R., Rohlf F.J. Biometry: the principles and practice of statistics in biological research. N-Y: Freeman & Co, 1995; 850.

4. Ulm K. A simple method to calculate the confidence interval of a standardized mortality ratio (SMR). Am J Epidemiol 1990; 131(2): 373–375. DOI: 10.1093/oxfordjournals.aje.a115507

5. Yoshioka K. KyPlot — a user-oriented tool for statistical data analysis and visualization. Computional Statistics 2002; 17(3): 425–437.

6. Hammer Ø., Harper D.А.Т., Ryan P.D. PAST: paleontological statistics software package for education and data analysis. Palaeontologia Electronica 2001; 1: 1–9.

7. TpX — A drawing tool for Windows. https://ctan.org/tex-archive/graphics/tpx

8. Thiese M.S., Ronna B., Ott U. P value interpretations and considerations. J Thoracic Dis 2016; 8(9): 928–931. DOI: 10.21037/jtd.2016.08.16

9. Alpatova M.A., Maklakova O.A., Ustinova O.Yu., Evseeva T.N. Regional program for monitoring congenital malformations in children in the Perm region. Vestnik Permskogo universiteta, Serija Biologija 2018; 2: 217–222. (in Russ.)

10. Demikova N.S., Lapina A.S., Podol’naya M.A., Kobrinsky B.A. Trends in the incidence of congenital malformations in the Russian Federation (according to the 2006–2012 Congenital Malformations Monitoring Base data). Rossiyskiy Vestnik Perinatologii i Pediatrii 2015; 60(2): 72–77. (in Russ.)

11. EUROCAT. Prevalence charts and tables. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/prevalence_en

12. Demikova N.S., Podol’naja M.A., Lapina A.S., Volodin N.N., Asanov A.Ju. The dynamics of the trisomy 21 (Down’s syndrome) frequency in the regions of the Russian Federation in 2011–2017. Pediatriya 2019; 98(2): 43–48. (in Russ.)

13. Ryazanova L.A., Nokhrin D.Yu., Alferova I.P. Down syndrome frequency in the Chelyabinsk city in 2012–2018. Ecology of the XXI century: Synthesis of education and science: Materials of the VI International scientific and practical conference (May 18–21, 2020, Chelyabinsk). Chelyabinsk: Publishing house of the South Ural State Pedagogical University, 2020; 255–258. (in Russ.)