Lack of Association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T Mutations, and Early Recurrent Pregnancy Loss in a Group of Sudanese Women

Abstract

BACKGROUND: Recurrent pregnancy loss is classically defined as the occurrence of three or more consecutive pregnancy loss. Recurrent pregnancy loss affects from 1-5% of the reproductive age couples. This diagnosis is both emotionally challenging and confusing for most couples, as the definitive diagnosis using conventional evaluations is found in fewer than half of the couples experiencing repeated loss.
 AIM: The purpose of this study was to define the association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T mutations and recurrent pregnancy loss in a group of Sudanese women.
 MATERIALS AND METHODS: This a retrospective analytical case control study was carried out at Omdurman Maternal Hospital, Sudan between July 2013 to July 2015. Consent was obtained from the ethical committee of the Faculty Research Board and Hospital of Omdurman Maternity Hospital (Sudan). The study included a hundred pregnant females with a history of recurrent spontaneous abortion as the (case group) and ninety-five healthy reproductive Sudanese women as the (control group). The data was collected with the help of a structured questionnaire and direct interview to collect information. Identification of point mutation in factor V Leiden G1691A, prothrombin G20210A and MTHF C677T gene by polymerase chain reaction was performed. The odds ratio and the 95% confidence interval (95%CI) were calculated for the presence of mutation case group and the control group and analyzed by SPSS program, version 17.0.
 RESULTS: The frequency of prothrombin G20210A, MTHFC677T, was low overall, except for the Factor V Leiden G1691A. The differences between patients and controls had no statistical significance (P- Value>0.05).
 CONCLUSION: Our study confirms the low prevalence of inherited thrombophilias in Sudanese populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in the Sudanse population.Therefore, we conclude that the low prevalence of Factor V Leiden, prothrombin G20210A and MTHFC677T in Sudanese women with RPL and does not play a role in the pathogenesis of recurrent pregnancy loss among our population.

Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women

“…It renders FVL resistant to the activated PC, thereby decreasing the anticoagulant function of PC and predisposition to thrombus formation [12]. The prothrombin G20210A mutation of the prothrombin gene exhibits increased synthesis and functional capability of prothrombin, favoring thrombosis In this study, the frequency of the FVL G1691A heterozygous mutation (G/A) was 3.5%, whereas that of the homozygous mutation (A/A) was 0.5% [OR = 17.71, 95% confidence interval (9%% CI): = 1.015-309.05], which is consistent with the results of previous studies [17,18]. The rate of the FVL G1691A polymorphism is almost similar in various pregnancy-associated clinical manifestations [19].…”

“…However, a recent study did not detect this mutation in a selected group of pregnant women [20]. In another study conducted in Sudan, the prevalence of prothrombin G20210A mutation was reported as 3.0%, which is higher than that observed in this study [17]. Other researchers have also reported a high prevalence of prothrombin G20210A heterozygous mutations in pregnant women with DVT or PE [19].…”