GENETIC ANALYSIS OF PREGNANCY WITH FETAL DEVELOPMENT DEFECTS AND EARLY FETAL LOSS

Abstract

The problem of complicated pregnancy and childbirth occupies the first place in obstetrics and perinatology. Nowadays, there is a lot of research on folate metabolism and its importance in reproductive health, gestational outcomes, and fetal development. Folic acid deficiency caused by diets or lack of enough folic acid in the body, as well as a decrease in the activity of enzymes due to defects in genes involved in folate metabolism, can lead to the development of fetal development defects and complications in pregnancy.

In recent years, mutant homozygous (TT) and heterozygous (ST) genotypes have been found in women with complicated pregnancies. Genetic deficiency of methylenetetrahydrofolate reductase (MTHFR), the key enzyme of the folate cycle, is considered one of the causes of hyperhomocysteinemia, which has a clear toxic effect on the endothelial layer of blood vessels and causes disturbances in the coagulation process. Hyperhomocysteinemia is important in the occurrence of microcirculation-related pregnancy complications, starting with spontaneous abortion in the 1st trimester of pregnancy, and ending with preeclampsia, premature detachment of placenta, and fetal antenatal death. At the same time, as a result of folate cycle disorders, fetal development defects, first of all neural tube defects, may occur. The importance of folic acid in the pathogenetic mechanisms of the origin of anemia has been shown. The study of dysfunctional alleles in genes of folate metabolism in infertility and miscarriage creates interes. The following article is an evidence-based summary of studies which were about folate metabolism, taking into account genetic predisposition and other components.