Obstetrics and Gynecology - A.M. Gromova 2000

Medical and Genetic Counseling in Obstetrics
Hereditary Diseases and Congenital Malformations
Causes and Mechanisms of Congenital Malformations and Hereditary Diseases

The causes and Pathogenesis of congenital and hereditary pathologies are highly diverse and individual, depending on the CHARACTERISTICS OF THE genotype and its interaction with the environment. According to WHO data, human health (birth rate, life expectancy, mortality) depends on living conditions and lifestyle by 50%, the state of the environment by 20-23%, the condition of The hereditary apparatus by 20%, and the level of healthcare development by 8-10%.

Congenital Malformations are permanent morphological alterations of an organ or the entire Organism that exceed the normal range of structural variation. They result from developmental disruptions during the prenatal period or, occasionally, after birth as a consequence of impaired subsequent organ formation.

An expanded definition of congenital malformation also encompasses distinct functional and metabolic anomalies, regardless of the time of their manifestation. The occurrence of congenital malformations represents errors in the execution of the organism's hereditary developmental program, driven by exogenous and endogenous factors.

Congenital malformations are generally classified according to Etiology, the target of the teratogenic factor, The sequence of occurrence, the distribution and localization of lesions, and the severity of their clinical manifestations. Based on etiological criteria, malformations are subdivided into teratogenic and genetic.



Last update: 08/08/2026

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