The role of 1691G>A (Leiden) mutation in Factor V gene, 20210G>A in prothrombin gene and 677C>T in MTHFR gene in etiology of early pregnancy loss

Summary Objectives: The objective of this study was to investigate the prevalence of common hereditary risk factors for thrombophilia (mutations 1691G>A, 20210G>A and 677C>T variant in factor V Leiden (FV), prothrombin (FII) and MTHFR gene, respectively) – in a cohort of women with early pregnancy loss. Material and methods: Frequency of mutations in FV, FII and MTHFR was assessed by PCR-RFLP or minisequencing in a cohort of 313 women with a history of at least two miscarriages and the control group consisting of 200 women without obstetric complications. Results: Compared with controls, neither FV mutation (3.2% vs 3%; p=0.45) nor the MTHFR 677TT variant (8.4% vs 11.1%; p=0.58) was more prevalent in the patients. Mutation in FII gene was more frequent in the patients (3.5% vs 0.5%; p=0.03) when compared with controls, however, the frequency of this mutation in controls was lower than estimated frequency in the population