The impact of hereditary thrombophilias in recurrent pregnancy loss

Karagur R.E., M. T. Alay, A. Demiray, N.Karagenc, O. Tokgun, T. Durak, H. Akca (2022). The impact of hereditary thrombophilias in recurrent pregnancy loss. -Genetika, Vol 54, No.3, 1399-1410. Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy loss which occurs before the 20th weeks of pregnancies for the last menstrual period. Hereditary cause of thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material and Method: 291 women with a history of two or more consecutive abortions as a study group and 61 women without the history of miscarriages as a control group were included in a study. In this study we analysed the effects of mutation ,FV Leiden mutation, MTHFR C677T, MTHFT A1298C, PAI-1, beta-fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIa (L33P) polymorphisms on RPL by using pyrosequencing. Chi-square and multiple regression analysis were used for statistical analysis. Results: FII prothrombin mutation, FV Leiden mutation, MTHFR C677T, MTHFR A1298C, PAI1 and Beta fibrinogen were found statistically significant in the chi-square test. Heterozygous FV G1691A (OR:8.092, CI: 1.280-51.165), homozygous MTHFR A1298C (OR:17.621, CI: 3.644 -85.203), Heterozygous MTHFR C677T (OR: 2.921 CI: 0.811-10.515), Homozygous MTHFR C677T (OR: 3.619 CI: 1.647-7.954), heterozygous MTHFR A1298C (OR: 5.989, CI: 2.574-13.934), homozygous PAI1 (OR: 8.756, CI: 2.805-27.334), heterozygous PAI1 ( OR: 7.114, CI: 3.145-16.096) homozygous Factor II Prothrombin FibrinogenG455A (4.085, CI: 1.438-11.610) were found statistically significant in logistic regression analysis for RPL(p<0.05). Discussion: This study indicated that there is a significant association between thrombophilias and RPL. Therefore, it is important to detect thrombophilic mutations in RPL.