Inherited Thrombophilia and Recurrent Pregnancy Loss

Background: Recurrent pregnancy loss (RPL) is a common health problem. The polymorphisms G20210A of prothrombin gene (FII G 20210A), and G 1691A of factor V gene (Factor V Leiden, FVL) are the most extensively studied thrombophilic mutations regarding recurrent miscarriage (abortion). Objectives: To determine the frequency of FII G20210A and FVL polymorphisms as well as protein C and protein S deficiency in a series of patients with RPL compared to control group. Patients and Methods: The study group included 90 randomly selected patients with three or more consecutive miscarriages with the same partner in < 20 weeks of gestational age in 2012. The control population consisted of 44 age-matched women with at least one live born children and no history of pregnancy loss. Functional activity of protein C and S, activated protein C resistance, FVL assay by polymerase chain reaction, and prothrombin gene mutation were assessed. The polymorphism frequencies were recorded for each group and comparisons were made. Results: The mean functional activity of protein C and protein S were not significantly different between case and control groups (P > 0.05). Frequency of protein C deficiency was also not significantly different between the case and control groups (P = 0.906), but frequency of protein S deficiency was significantly higher in patients than controls (P = 0.03). Genotype patterns of the patients and healthy individuals were not significantly different regarding either FVL or Prothrombin G20210A (P > 0.05). Conclusions: We determined a significant higher frequency of protein S deficiency in patients with RPL compared to controls. But the frequency of protein C deficiency and the two common thrombophilic mutations (Factor V Leiden and Prothrombin G20210A), were not significantly different between patients with recurrent miscarriage and healthy women.