Tsybulskaya I.S.
Federal Research Institute for Health Organization and Informatics of Ministry of Health of the Russian Federation, Moscow

Abstract. The purpose of the study was to determine formation peculiarities of the children’s phenotype against the background of negative impact of external environmental factors during antenatal period and mechanism of their impact on the fetus and children.

Methods and data. The following environmental factors were analyzed: quality of mother’s life (negative social and psychological impacts on pregnant woman) and ecological environment (residence in territories affected by Chernobyl accident). The following clinical manifestations were studied: metabolism, neurohormonal regulatory systems and vital systems participating in adaptative and compensatory reactions of the body, genetic status of somatic blood cells (DNA-repair response, protein polymorphism, mutagenesis).

More than two thousand children underwent a comprehensive examination, including evaluation of life quality of mothers for 672 children and 1382 children residing in radiation polluted areas (including 498 genetic testing).

Results. The author detected a stereotypic abient response of the fetus in early ontogenesis to the negative environmental exposure in the form of activated pituitary-thyroid system, metabolism (oxidation processes) and harmful influence in the form of reduced heterozygosis, DNA-repair response, mutagenesis and defects of neuro-vegetative-visceral sphere.

The harmful affect was mainly manifested in the fetus and in children following stress (including delivery) and during critical periods of child’s growth and development (age 1-2 months, 9-10 months and in adolescents)

Conclusions. The author presents a principal scheme of the specific phenotype formation against the background of perinatal pathological impacts, and makes a hypothesis of constant deterioration when exposed to negative environmental factors of individual biological peculiarities in consecutive generations as well as the leading role that formation of a specific phenotype plays in the growing incidence of multifactorial diseases nowadays.

Keywords: environmental exposure; regulatory systems; energy supply; genetic apparatus of somatic cells; specific phenotype; evolutionary development programs (fetal programming); multifactorial diseases.

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