THE STUDY OF SOCIAL-MEDICAL AND GENETIC RISKS OF REPRODUCTIVE LOSSES
Object of research: homozygous and heterozygous disorders of genes encoding the enzymes of the folate cycle, methylenetetrahydrofolate reductase (MTHFR) and methionine-synthase-reductase (MTRR).
Solved problem: an in-depth study of genetically determined risk factor’s influence for reproductive losses associated with homozygous and heterozygous disorders of folate cycle genes.
Main scientific results: in-depth study of genetically determined reproductive losses as a systemic phenomenon was held. The structural characteristics of reproductive losses in population and significant predominance of pathology in the pedigrees of those examined with a burdened obstetric history of reproductive losses were determined. Also, a significant increase in the chances of reproductive loss in patients with heterozygous and homozygous inheritance of MTHFR and MTRR genes was determined. A correlation effect on the degree of genomic polymorphism of the MTHFR and MTRR gene was noted.
Area of practical use of research results: medical-genetic institutions.
Innovative technological product: determination of genetically risk factors for growth of reproductive losses of the population associated with homozygous and heterozygous disorders of genes encoding the enzymes of the folate cycle (MTHFR C677T and MTRR A66G). Timely adjustment of folic acid levels allows to prevent birth defects and reduce reproductive losses
Scope of application of the innovative technological product: clinical medical-genetic practice using the ability to determine the polymorphism of genes MTHFR and MTRR, which makes it possible to timely adjust the level of folic acid and prevent the reproductive losses.
Shi, T., Huang, L.-J., Xiong, Y.-Q., Zhong, Y.-Y., Yang, J.-J., Fu, T. et. al. (2018). The risk of herpes simplex virus and human cytomegalovirus infection during pregnancy upon adverse pregnancy outcomes: A meta-analysis. Journal of Clinical Virology, 104, 48–55. doi: http://doi.org/10.1016/j.jcv.2018.04.016
Pinar, M. H., Gibbins, K., He, M., Kostadinov, S., Silver, R. (2018). Early Pregnancy Losses: Review of Nomenclature, Histopathology, and Possible Etiologies. Fetal and Pediatric Pathology, 37 (3), 191–209. doi: http://doi.org/10.1080/15513815.2018.1455775
Shahine, L., Lathi, R. (2015). Recurrent Pregnancy Loss. Obstetrics and Gynecology Clinics of North America, 42 (1), 117–134. doi: http://doi.org/10.1016/j.ogc.2014.10.002
Kohn, T. P., Kohn, J. R., Darilek, S., Ramasamy, R., Lipshultz, L. (2016). Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy. Journal of Assisted Reproduction and Genetics, 33 (5), 571–576. doi: http://doi.org/10.1007/s10815-016-0702-8
Robinson, G. E. (2014). Pregnancy loss. Best Practice & Research Clinical Obstetrics & Gynaecology, 28 (1), 169–178. doi: http://doi.org/10.1016/j.bpobgyn.2013.08.012
Romero, S. T., Geiersbach, K. B., Paxton, C. N., Rose, N. C., Schisterman, E. F., Branch, D. W., Silver, R. M. (2015). Differentiation of genetic abnormalities in early pregnancy loss. Ultrasound in Obstetrics & Gynecology, 45 (1), 89–94. doi: http://doi.org/10.1002/uog.14713
Ouyang, Y., Tan, Y., Yi, Y., Gong, F., Lin, G., Li, X., Lu, G. (2016). Correlation between chromosomal distribution and embryonic findings on ultrasound in early pregnancy loss after IVF-embryo transfer. Human reproduction, 31 (10), 2212–2218. doi: http://doi.org/10.1093/humrep/dew201
Yi, Y., Lu, G., Ouyang, Y., lin, G., Gong, F., Li, X. (2016). A logistic model to predict early pregnancy loss following in vitro fertilization based on 2601 infertility patients. Reproductive Biology and Endocrinology, 14 (1). doi: http://doi.org/10.1186/s12958-016-0147-z
Waterman, C., Batstone, P., Bown, N., Cresswell, L., Delmege, C., English, C. et. al. (2016). The clinical utility of genetic testing of tissues from pregnancy losses. BJOG: An International Journal of Obstetrics & Gynaecology, 125 (7), 867–873. doi: http://doi.org/10.1111/1471-0528.14229
Kacprzak, M., Chrzanowska, M., Skoczylas, B., Moczulska, H., Borowiec, M., Sieroszewski, P. (2016). Genetic causes of recurrent miscarriages. Ginekologia Polska, 87 (10), 722–726. doi: http://doi.org/10.5603/gp.2016.0075
Greenberg, J. A., Bell, S. J., Guan, Y., Yu, Y. H. (2011). Folic Acid supplementation and pregnancy: more than just neural tube defect prevention. Reviews in Obstetrics & Gynecology, 4 (2), 52–59.
Scazziota, A., Pons, S., Raimondi, R., Fernandez, C. (2000). Is C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) a risk factor for arterial thrombosis? 16th Congress oh thrombosis and haemostasis. Porto, 47–53.
Grechanina, E. Ia., Lesovoi, V. N., Miasoedov, V. V., Grechanina, Iu. B., Gusar, V. A. (2010). Zakonomernaia sviaz mezhdu razvitiem nekotorykh epigeneticheskikh boleznei i narusheniem metilirovaniia DNK vsledstvie defitsita fermentov folatnogo tsikla. Ultrazvukova perinatalna dіagnostika, 29, 27–59. Available at: http://repo.knmu.edu.ua/handle/123456789/628
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