ETIOPATHOGENESIS OF RECURRENT PREGNANCY LOSS DUE TO GENETIC FORMS OF THROMBOPHILIA

  • T. O. Loskutova Dnipro State Medical University
  • A.P. Petulko Dnipro State Medical University
  • N.V. Kryachkova Dnipro State Medical University
Keywords: pregnancy loss, genetic thrombophilia, pregnancy complications, hemostasis system, pregnancy management

Abstract

The aim of the study was to develop a concept of the etiopathogenesis of miscarriages due to the genetic form of thrombophilia.

Materials and methods. In a prospective cohort study, 143 pregnant women were examined, including 109 with pregnancy loss and genetic defects of hemostasis [main (M) group]; the control (K) group consisted of 34 relatively healthy pregnant women with a light history and pregnancy without risk factors for pregnancy loss. Genetic polymorphisms of coagulation factors and fibrinolysis (1691 G→A FVL, 20210 G→A prothrombin, 675 5G/4G PAI-1, 455 G→A fibrinogen β), endothelial dysfunction (677 C→T MTHFR) were studied with the help of allele-specific polymerase chain reaction.

Results. A comprehensive clinical, laboratory, instrumental and statistical analysis has determined the main risk factors for pregnancy loss. Pathological polymorphisms of hemostasis and endothelial dysfunction genes play an important role in the development of miscarriage, namely the following pathological genotypes: 1691 GA factor V Leiden - increases the risk by 5.3 times (95% CI 1.5-18.5), 20210 GA prothrombin - 26.47 times (1.6-445.7), 675 4G / 4G PAI-1 - 7.5 times (1.7-33.79), -455AA fibrinogen β - 9.7 times (1.3-74.16), 677 CT MTHFR - 2.6 times (1.0-6.2), 677TT MTHFR - 21.7 times (1.3-368.6). It has been found that multigenic forms of thrombophilia predominate in most patients with pregnancy loss - 76.1% (p <0.001, OR = 12.31, 95% CI 4.8-31.55).

Conclusions. The obtained data allowed us to form a concept of the etiopathogenesis of recurrent pregnancy loss due to genetic thrombophilia and justify the need for a personalized approach in each case of pregnancy loss.

References

Bender Atik R, Christiansen O, Elson J, Kolte A, Lewis S, Middeldorp S et al. ESHRE guideline: recurrent pregnancy loss. Human Reproduction Open. 2018;2018(2).
van Dijk M, Kolte A, Limpens J, Kirk E, Quenby S, van Wely M et al. Recurrent pregnancy loss: diagnostic workup after two or three pregnancy losses? A systematic review of the literature and meta-analysis. Human Reproduction Update. 2020;26(3):356-367.
Papas R, Kutteh W. A new algorithm for the evaluation of recurrent pregnancy loss redefining unexplained miscarriage: review of current guidelines. Current Opinion in Obstetrics & Gynecology. 2020;32(5):371-379.
Barut M, Bozkurt M, Kahraman M, Yıldırım E, Imirzalioğlu N, Kubar A et al. Thrombophilia and Recurrent Pregnancy Loss: The Enigma Continues. Medical Science Monitor. 2018;24:4288-4294.
Magnus M, Wilcox A, Morken N, Weinberg C, Håberg S. Role of Maternal Age and Pregnancy History in Risk of Miscarriage: Prospective Register-based Study. Obstetric Anesthesia Digest. 2019;39(4):191-192.
Horvath B, Bodecs T, Boncz I, Bodis J. Metabolic Syndrome in Normal and Complicated Pregnancies. Metabolic Syndrome and Related Disorders. 2013;11(3):185-188.
The investigation and treatment of couples with recurrent first-trimester and second-trimester miscarriage. RCOG. Green-top Guideline. 2011;17: 1–18.
ACOG Practice Bulletin No. 197: Inherited Thrombophilias in Pregnancy. Obstetrics & Gynecology. 2018;132(1):e18-e34.
Toth B, Würfel W, Bohlmann M, Zschocke J, Rudnik-Schöneborn S, Nawroth F et al. Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050). Geburtshilfe und Frauenheilkunde. 2018;78(04):364-381.
Voronin KV, Loskutova TO., Davidenko NV. The state of the platelet hemostasis system in pregnant women with fetal loss syndrome [Stan trombotsytarnoi lanky systemy hemostazu u vahitnykh z syndromom vtraty plodu]. Current issues of pediatrics, obstetrics and gynecology. 2011; 1: 113–116. (In Ukrainian).
Musters A, Koot Y, van den Boogaard N, Kaaijk E, Macklon N, van der Veen F et al. Supportive care for women with recurrent miscarriage: a survey to quantify women's preferences. Human Reproduction. 2012;28(2):398-405.
Published
2022-07-04
How to Cite
Loskutova, T. O., Petulko, A., & Kryachkova, N. (2022). ETIOPATHOGENESIS OF RECURRENT PREGNANCY LOSS DUE TO GENETIC FORMS OF THROMBOPHILIA. Journal of Internal Medicine: Science & Art, 3(1), 10 - 18. https://doi.org/10.36013/jimsa.v3i1.95
Section
Articles