Prevalence of factor V G1691A (factor V‐Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population

Abstract

Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inheritedrisk factors for venous thrombosis. Recently, it was suggested that both mutations,through stimulation of venous and placental thrombosis events, were strongly associ-ated with recurrent idiopathic miscarriages, although other studies disputed such a link.The aim of this study was to determine the prevalence of prothrombin G20210A andfactor V G1691A (R506Q, FV-Leiden) mutations in women with recurrent idiopathic abor-tions and to recommend management for high-risk mutation carriers. One hundred tenwomen with two or more consecutive unexplained first-trimester miscarriages (mean age± SD, 32.3 ± 5.3) were compared to 67 parous women with uncomplicated pregnancies(mean age ± SD, 33.9 ±7.3) (P= 0.134) from the same ethnic background. The presence orabsence of the prothrombin G20210A and FV-Leiden mutations was assessed by PCRand RFLP analysis, usingHindIII andMnlI digestion, respectively. In women with primaryhabitual abortion, 45 (40.91%) carried the FV-Leiden mutation, of whom 7 were in thehomozygote and 38 were in the heterozygote states, and 15 (13.64%) carried the pro-thrombin G20210A mutation all as heterozygotes, compared to 16.42% and 2.99% carrierrates among controls, respectively, all of whom were heterozygote carriers. Of the otherrisk factors analyzed, smoking (OR 1.76; 95% CI = 0.79–3.94) was more prevalent inhabitual aborters compared to controls. Both FV-Leiden and factor II G20210A mutationsare major inherited risk factor associated with primary recurrent miscarriages. Womenwith a family or personal history of thrombosis should be screened before or early in thepregnancy for FV-Leiden and factor