Prevention and diagnosis of congenital malformations

The problem of inherited pathology remains relevant, gaining in recent decades and medical and biological and acute socio-economic importance. 

Purpose. To analyse statistical data on prevention and diagnosis of congenital malformations in Primorsky Krai. 

Material and methods. As a material of the study, the data of medical-genetic consultation and medical-genetic assistance were used. Information Federal State Statistics Service for the Primorsky Territory on the birth rate. The data were processed using descriptive statistics. 

Results. According to the study, during 2015–2017, within the framework of the budget 5561 (2015), 5537 (2016), and 5418 (2018), patients visited reception for the medical and genetic consultation and received the corresponding assistance. Most congenital malformation of compulsory registration was recorded in large urban districts (34.1–5.7%), and the remaining municipalities accounted for 0.2–3%. Diseases of the circulatory system, deformations of the musculoskeletal system, diseases of the urogenital system (frequency of occurrence 36.5%, 13.8%, 11.3%, respectively) dominated the structure of congenital malformations. The most common congenital malformations of mandatory registration identified during the prenatal screening – hypospadias and Down syndrome were identified. The most common congenital malformations identified during mass neonatal screening included hypothyroidism, phenylketonuria, cystic fibrosis. 

Conclusion. Possible reasons for the high level of congenital malformations in some areas of Primorsky Krai are lack of public awareness of the problem, environmental conditions, distance from the regional medical and genetic centre, lack of qualified specialists and modern equipment for research in municipal hospitals. However, proper medical and genetic counselling, prenatal diagnosis and monitoring play a critical role in the prevention of congenital malformations.

Contribution of the authors:

Astrakhantseva M.A. — data collection and statistical processing, work with literature, writing а text, responsibility for the integrity of all parts of the article;

Kiku P.F. — the concept and design of the study, writing а text, approval of the final version of the article, responsibility for the integrity of all parts of the article;

Voronin S.V. — the concept and design of the study, writing а text, editing;

Sukhova A.V. — work with literature, editing.

Acknowledgments. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.