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Relevance – it is promising to develop a system for the diagnosis and prevention of primary open-angle glaucoma (POAG), which would be based on the determination of constitutive propensity factors and would be able to predict the onset and progression of the disease. The aim of the study was to develop a model for predicting the rate of progression of primary open-angle glaucoma depending on gender and endothelial NO-synthase (NOS3) gene polymorphism. There were genotyped 153 patients with POAG aged 36-84 years. Genotypes rs1799983 and rs207074 were determined in the blood of patients by real-time polymerase chain reaction (amplifier Gene Amp® PCR System 7500; USA) using the TaqMan Mutation Detection Assays Life-Technology test system (USA). For mathematical processing of the obtained results, the Statistica 10 program (StatSoft, Inc., USA) was used. The rate of progression of POAG was higher in the presence of risk alleles in the haplotype of the NOS3 gene polymorphisms: T rs1799983 and C rs2070744 (haplotypes TT-CC, GT-CC and GT-CT), which, when distributed by gender, was more pronounced in women than in men of each of the possible haplotypes. The maximum difference was noted for carriers of the TT-SS haplotype, in whom the rate of progression of POAG in women exceeded that in men by 1.4 times (p<0.001). A regression model was built with satisfactory prediction indicators (multiple correlation coefficient R=0.963; coefficient of determination R² =0.928; p<0.001). The probable “hereditary” age of patients in which one or another stage of POAG should be expected is calculated. Gender and haplotypes rs1799983 and rs2070744 of the NOS3 gene were shown to be associated with the onset and rate of progression of POAG, which was implemented in the prognostic model of the disease. Separately for men and women, carriers of different haplotypes, the rate of progression and the possible age of POAG development by stages were calculated. [ABSTRACT FROM AUTHOR]

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Introduction. Here we discuss the problem of timely diagnostics and prevention of Rh-immunization of pregnant women as well as fetal hemolytic disease, which remains currently relevant, despite the existence of proven diagnostic, therapeutic and preventive methods.Aim: to assess the medico-economic efficiency of non-invasive prenatal diagnostics of using fetal Rh factor (rhesus D antigen, RhD) in maternal blood – a fetal RhD-genotyping.Materials and Methods. A retrospective observational study was conducted to analyze determining fetal Rh-factor in the blood samples from 4109 Rh-negative pregnant women observed in the 41 medical facilities of the Ulyanovsk region in the years 2018–2020. The fetal RhD level was determined by polymerase chain reaction at gestational age of ≥ 10 weeks. To assess testrelated medical effectiveness, there were examined sensitivity, specificity, predictive value of positive and negative data as well as diagnostic accuracy. The data collected during the study were compared with those obtained after delivery. To assess the economic efficiency, the difference between the cost of immunization and the cost of determining the fetal Rh factor level was determined.Results. A positive and negative fetal Rh-factor was detected in 67.26 % (n = 2793) and 32.74 % (n = 1316) cases, respectively. Diagnostic accuracy of the test system "Test-RhD" was 99.40 %, sensitivity – 99.84 %, specificity – 97.51 %, the prognostic value of a positive result was 99.43 %, the predictive value of a negative result – 99.28 % with low rate of false positive and false negative data. It was shown that our study allows to avoid unnecessary immunization costs for all Rh-negative pregnant women.Conclusion. Analysis of the diagnostic characteristics and cost-effectiveness of the RhD test evidences about high medical significance of the method described and allows to recommend its wider application.