Mykytenko D. Improvement of system of measures for the prevention of chromosomal pathology based on indirect assessment of genetic load in patients with infertility

The dissertation is dedicated to the solution of a significant scientific and practical problem of the improvement of the genetic pathology prevention. The imperfection of the system of medical genetic care organization, its incongruence to the international and domestic preventive health care strategies, the limited available resources for providing affordable and quality medical genetic care were revealed by a complex medical social investigation. It required a scientific substantiation of the medical genetic care optimization. The modern tendencies of morbidity and prevalence of genetically determined pathology among the populace of Ukraine and their regional features are determined. The regional risks of infertility among the populace are revealed. The tendency to increase the prevalence of infertility among the female and male populace of Ukraine is characterized. The Odds Ratio indexes of infertility in the case of combined influence of controlled risk factors are calculated. The population genetic load on the stages of ontogenesis was estimated and the effectiveness of its individual prevention in patients with infertility in cycles of assisted reproductive technologies is determined. The imperfection of resource provision of the medical genetic service was proved. The disadvantages of the realization of medical prevention of genetic pathology are identified. The significant problems in the availability of medical genetic services for the populace are revealed according to the doctors' and patients' opinions. The imperfection of the system of evaluation of the medical and economic efficiency of medical and diagnostic genetic measures is described. The estimation model of the economic equivalent of the value of human life was substantiated by determination of the state economic profit from the saved person's efficiency. The opinions of specialists on optimization of medical genetic care were studied. It was substantiated and developed the modern functional and structural model of the medical genetic monitoring system and the complex of measures for the improvement of genetic pathology prevention as well.