Inherited thrombophilia and recurrent pregnancy loss

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 in association to recurrent miscarriage.

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 with control group.

The study group included 90 randomly selected patients with three or more consecutive miscarriages with the same partner in <20 weeks gestation 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.

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 pattern of the patients and healthy individuals were not significantly different with regard to either FVL or Prothrombin G20210A (P > 0.05).

We determined a significant higher frequency of protein S deficiency in patients with RPL compared with controls. But the frequency of protein C deficiency and the frequency of two common thrombophilic mutations (Factor V Leiden and Prothrombin G20210A), were not significantly different between patients with recurrent miscarriage and healthy women.