Preview

Medical Genetics

Advanced search

Descriptive epidemiology of multiple congenital malformations according to monitoring data for 2011-2020

https://doi.org/10.25557/2073-7998.2023.05.32-39

Abstract

Introduction. In the congenital malformations epidemiological monitoring system, multiple congenital malformations (MCM) are considered to be more sensitive indicators of the negative impact of the environment and the detection of teratogens compared to isolated malformations. So the study of the epidemiology of this group of defects is necessary. The aim of the research is to assess the prevalence and dynamics of MCM in the regions of the Russian Federation for the period from 2011 to 2020, as well as to analyze the structure of MCM and assess risk factors.

Materials. Data from epidemiological monitoring of CM from 23 regional registers of the Russian Federation for the period from 2011 to 2020. The total number of registered cases of congenital malformations was 116,705, the number of MCM cases was 8,637. The total number of births was 4,379,889. The frequencies were calculated per 10,000 births.

Results. The overall prevalence of MCM was 19.72 per 10,000 births. There are interregional fluctuations in the prevalence of the MCM group. Over 10 years of observation, there has been an increase in the prevalence of MCM from 17.67 to 22.77 per 10,000. The proportion of induced abortions is significantly higher in the MCM group compared to isolated CMs (39.2% and 18%, respectively). Newborns with MCM are more often born with low body weight, with a slight male predominance (1.5M:1F). In the structure of malformations, congenital malformations of the cardiovascular, musculoskeletal and nervous systems are most common.

Conclusion. MCM are an important subgroup of rare diseases included in malformation monitoring systems. The creation of astandardized high-quality database on MCM will make it possible to analyze the dynamics of the prevalence of multiple malformations in different regions of the Russian Federation and effectively solve the tasks of monitoring CMs to identify teratogenic factors.

About the Authors

N. S. Demikova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Russian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian Federation
Russian Federation

2 Taldomskaya st., Moscow, 125412

2/1 Barrikadnaya st., Moscow, 125993



A. N. Putintsev
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation

2 Taldomskaya st., Moscow, 125412



References

1. Martínez-Frías M.L. Approaches to the analysis of infants with multiple congenital anomalies. Am J of Medical Genetics. 2001; 101: 33-35.

2. Calzolari E., Barisic I., Loane M. et al. Epidemiology of Multiple Congenital Anomalies in Europe: A EUROCAT Population-Based Registry StudyBirth Defects Research (Part A). 2014; 100: 270–276.

3. Czeizel A., Kovács M., Kiss P., Méhes K. et al. A nationwide evaluation of multiple congenital abnormalities in Hungary. Genet Epidemiol. 1988; 5(3): 183-202. doi: 10.1002/gepi.1370050305.

4. Martínez-Frías M. L., Salvador J. Epidemiological Aspects of Prenatal Exposure to High Doses of Vitamin A in Spain European Journal of Epidemiology. 1990, 6, No. 2 (Jun.,); 118-123.

5. Toxværd M.E., Garne E. Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark. Front. Pediatr. 2021; 9: 614864. doi: 10.3389/fped.2021.614864.

6. Garne E., Dolk H., Loane M., Wellesley D. et al. Paper 5: Surveillance of Multiple Congenital Anomalies: Implementation of a Computer Algorithm in European Registers for Classification of Cases. Birth Defects Research (Part A). 201; 91: S44-S50.

7. Puhó E.H, Czeizel A.E, Acs N., Bánhidy F. Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Congenit Anom (Kyoto). 2008 Sep;48(3):126-136. doi: 10.1111/j.1741-4520.2008.00192.x.


Review

For citations:


Demikova N.S., Putintsev A.N. Descriptive epidemiology of multiple congenital malformations according to monitoring data for 2011-2020. Medical Genetics. 2023;22(5):32-39. (In Russ.) https://doi.org/10.25557/2073-7998.2023.05.32-39

Views: 1423


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2073-7998 (Print)