Molecular Genetic Determinants of Pregnancy Pathology

Abstract

In the modern world, scientists often discuss problems associated with complications of pregnancy and childbirth in women. The study of cases of repeated fetal loss, stillbirth, intrauterine growth retardation and preeclampsia leads to the discovery of new aspects of this pathology. Of particular interest is Upshaw−Schulman syndrome, a rare congenital form of thrombotic thrombocytopenic purpura caused by mutations in the ADAMTS13 gene. This gene encodes a metalloproteinase capable of cleaving von Willebrand factor, which is important for blood clotting processes. A review of modern Russian and foreign, primarily English-language, literature was conducted on methods of diagnosis and treatment of congenital thrombocytopenic purpura as well as the prevention of complications of pregnancy and childbirth. This review highlights the main mechanisms of development and progression of the syndrome, current directions of management of women with Upshaw−Schulman syndrome, and methods of therapy of associated reproductive failure, and also presents modern groups of pharmacological drugs of choice. Pregnancy with Upshaw−Schulman syndrome is becoming a major focus of research in obstetrics, and it is important to conduct further high-quality association studies to develop innovative therapeutic options and options in the future.