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Medical and Social Justification of the Implementation of the Optimized Model of Prevention of Genetically Determined Reproductive Losses

Among the objects of organizational influence of the health care system on reproductive losses, miscarriages and congenital malformations (birth defects) are the most important. Diagnosis of most genetic, chromosomal diseases and malformations of the embryo and fetus is performed using biochemical, cytogenetic, molecular genetic tests and ultrasound diagnostic. Many clinical geneticists focus on birth defects and miscarriages associated with folate cycle disorders related with the greatest number of reproductive losses. We studied levels of homocysteine, folic acid and vitamin B12 in pregnant blood and polymorphic genes C677T MTHFR and A66G MTRR considered due to folate cycle disorders. The purpose of the study was to analyze the organizational aspects of the existing model for the prevention of genetically determined reproductive losses and to propose measures to improve the model. Material and methods. The methods of system approach and analysis, bibliosemantic, prospective, economic, expert assessments provided by the specialty passport (14.02.2003) "Social Medicine" were used for the research. Research period: 2008–2018. Place of research: "Interregional Specialized Medical and Genetic Center – Center for Rare (Orphan) Diseases" of Kharkiv Regional Council. Genetic maps of the archive and own patients, normative-legal acts, data of medical statistics were analyzed. Results and discussion. The study suggested an optimized model for the prevention of genetically determined reproductive losses, which took into account examinations for homocysteine, folic acid, vitamin B12 levels, MTHFR and MTRR genes to find their polymorphism, ultrasound, prevention using diet and vitamin therapy, involving gynecologists, family physicians and clinical geneticists. The principles of accessibility, safety, effectiveness, timeliness, cost-effectiveness, protection of rights and freedoms (non-discrimination), personal orientation, legal basis, cooperation with other medical and non-medical organizations and institutions, prevention character, complexity and variety of forms of physician’s cooperation who provide care to pregnant with reproductive losses in anamnesis, couples planning a pregnancy, newborns with birth defects, chromosomal, genetic diseases and syndromes. The efficient and uninterrupted operation of the developed optimized system is ensured with the participation of "feedback" mechanisms. Adherence to the proposed model will provide an opportunity to significantly reduce reproductive losses in the coming years in Ukraine, provided that its principles are included in the relevant national programs and protocols