Biochemical Anthropogenetic Method as a Basis for Diagnostics and Prevention of Hereditary Pathology

Hereditary development and metabolic disorders make up 3.2% and 2.74%, respectively, of the infant morbidity in the first year of life. Compared to the European countries, the infant mortality rate in Ukraine has increased 2.5-3 times. Genetic disorders make up 20-30% of the newborn mortality. The introduction of a comprehensive screening of newborns, based on using the biochemical anthropogenetic method, is one of the critical paths for prevention of hereditary pathology. The objective of the study is analysis and generalization of data on viability and efficiency of the biochemical method for diagnostics and prevention of the hereditary pathology. Materials and methods. The method of systemic approach to comprehension of information obtained from the scientific literature and the statistical method of analysis of medical information were used in the work. Results and discussions. The study covered the main principles of preventing the hereditary pathology. We stressed upon the relevance of neonatal prophylaxis with involvement of comprehensive and selective screening programs. The biochemical method is at the core of prophylactic screening of the population for detection of hereditary pathology. Ukraine has developed the programs for screening of the following four diseases: phenylketonuria, congenital hypothyroidism, adrenogenital syndrome, and cystic fibrosis. It` worthy to note that early diagnostics of hereditary diseases by means of identification of certain biochemical markers and timely treatment make it possible to reduce infant mortality, stop the development of severe forms of the disease, reduce the early disability, and improve the quality of life of patients. We considered the main indications for application of the biochemical method. The biochemical method makes it possible to determine a human phenotype at the level of primary gene product, the process of forming its active form at the stage of metabolic transformation, and production of intermediate or terminal metabolites. In addition, the biochemical method allows determining the deficiency or excess of a certain substance, its abnormal metabolites, and deviation in the enzymatic activity. The following techniques are of a diagnostic importance: fluorometry, combined gas chromatography mass-spectrometry, spectrophotometry, thin-layer chromatography, ion-exchange liquid chromatography, and tandem mass spectrometry. Conclusion. Therefore, the main objective of the screening programs is expansion of the list of diseases advisable to apply neonatal screening and improve biochemical screening techniques for higher accuracy, affordability and less financial costs.