Factor V Leiden G1691A and Prothrombin Gene G20210A Mutations on Pregnancy Outcome

Abstract

Factor V Leiden (FVL) G1619A mutation and prothrombin gene (PTG) G20210A are the most common inherited thrombophilias. They have been associated with various obstetric complications such as venous thromboembolism, recurrent pregnancy loss, preeclampsia, abruptio placentae, and small for gestational age fetus. The prevalence of these two mutations is 3-15% in Caucasians and is assumed to be far less common in other ethnic populations. However, there have been several controversies regarding advising routine screening of these thrombophilias because of a widely variable strength of association between different ethnic groups, as well as contradictory conclusions by different studies in regards to the association. In this study, the literature was analyzed thoroughly for the effect of FVL G1619A and PTG G20210A mutations on various obstetric outcomes. A review of multiple case-control and prospective studies suggests that despite the availability of robust data on this subject the results remain inconclusive and insubstantial. Further superior quality research, preferably prospective studies, is warranted to conclusively establish this relationship and to enable practitioners to follow a definitive protocol in the screening of various populations for these mutations to achieve an improved pregnancy outcome.

Keywords: factor v affecting pregnancy; factor v leiden mutation; g1691a gene mutation; g20210a gene mutation; prothrombin gene mutation; prothrombin mutation affecting pregnancy.

Figure 1. Pathophysiology of factor V Leiden gene mutation.

The image was created by one of the authors (Gazala Hitawala, MBBS) [11,12,21,22].