Patskun E. The Frequency and Structure of Congenital and Hereditary Pathology in the Transcarpathian population.

The thesis characterizes the genetic load of the Transcarpathian population of Ukraine according to the results of the prenatal and postnatal investigation of congenital and hereditary pathology over the period of 2000-2007.The frequency and structure of birth defects is analyzed in live-born, still-born, terminated pregnancy and new-born under one year of age in the dynamics of the period under research as compared to the relevant data in Ukraine in mountainous and lowland areas in all subregions of the Transkarpathian region.The contribution of congenital pathology in infant and child mortality rate is analyzed taking into consideration the intraregional peculiarities of its spectrum and prevalence.A register of hereditary pathology is formed by the Transcarpathian Medical Genetic Counseling. The spectrum of widespread hereditary pathology, the rate of consaguineous marriages and ethnic peculiarities of the nosological structure monogenic and chromosomal diseases is analyzed. The strategic directions and intraregional tactics of congenital and hereditary pathology prevention in the Transcarpathian population are elaborated.