Association of factor V leiden G1691A and prothrombin gene G20210A mutation with adverse pregnancy outcomes

Background: Familial defects and polymorphisms of clotting cascade proteins protein S, protein C, factor V Leiden G1691A and factor II G20210A are linked with increased risk of thromboembolism which is better known as inherited thrombophilia. Thrombophilia causes deep venous thrombosis, pulmonary embolism and is strongly associated with poor pregnancy outcomes. Pathophysiology of these outcomes is thought to involve thrombosis in uteroplacental blood flow hence, anticoagulation therapy can potentially improve obstetric outcome in females with thrombophilias. To date, there is local limited data on the role of these genetic abnormalities causing adverse pregnancy outcomes. Objective: Determine the association of factor V Leiden G1691A and prothrombin gene G20210A mutation with adverse pregnancy outcomes. Methods: It is a case control study, conducted at clinical laboratory, section of haematology, and PCR-RFLP technique is used at multi-disciplinary laboratory, AKUH. Females with adverse pregnancy outcomes coming to obstetrical clinic are included in the study as cases. Control samples are selected from females with ≥ 2 consecutive normal pregnancies. Calculated sample size is 172 which comprise of 86 cases and 86 controls. Results: The mean age of cases was 29.3 (±5.17) years while that of controls was 31.8 years (±6.23). 34% of cases had previous live births. One case (2/86) had heterozygous mutation of factor V Leiden G1691A and while none was identified in control arm (0/86). Heterozygous prothrombin gene mutation was identified in one case (1/86) while none of the controls (0/20) exhibited this mutation. Conclusion: Overall, this study does not support a significant association between inherited thrombophilia mutations and adverse pregnancy outcomes. The apparent lack of association may be reconciled by the low numbers of subjects recruited. Keywords: Factor V Leiden G1691A, factor II G20210A, adverse pregnancy outcomes, inherited thrombophili