Genetic Testing for Inherited Thrombophilia in Women with Recurrent Pregnancy Loss: Prevalence and Risk Assessment of Factor V Leiden, Prothrombin, and MTHFR Mutations

Abstract

Genetic testing for inherited thrombophilia in women with recurrent pregnancy loss (RPL) may play an important role in detecting high-risk subjects. DNA was extracted from peripheral blood leukocytes. The high pure polymerase chain reaction template preparation kit and Reverse hybridization technique were used to detect the presence of factor V (G1691A, Leiden) (FVL), Factor II (prothrombin, G20210A), and 5,10-methylenetetrahydrofolate reductase (MTHFR, C677T) mutations. A total of 127 cases of pregnancy loss participated in the study, with the control group consisting of 26 multiparous women with no history of pregnancy loss. Women with early recurrent pregnancy loss (RPL) of unknown cause (n=76) experienced an average of 2.97 ± 1.15 miscarriages, with a mean fetal gestational age at the time of abortion of 7.79 ± 4.52 weeks. In this group, the prevalence of FVL, Factor II, and MTHFR was 50%, 1.3%, and 43.4%, respectively, compared to 15.4%, 0%, and 34.6%, respectively, in the control group. Among the tested mutations, only the prevalence of FVL was statistically different between the early RPL and control groups, with an odds ratio (OR) of 5.5 for early RPL of unknown cause. The early pregnancy loss group with a suspected cause (n=24) had hypothyroidism and respiratory infections as potential causes of abortion, contributing to 54.2% and 33.3% of cases, respectively. The prevalence of MTHFR, but not FVL or Factor II, was statistically different in this group compared to the control group, with an OR of 3.8. In conclusion, FVL mutation can be considered as a risk factor for early RPL of unknown cause.