Combined Parental Thrombophilia Gene Mutation Defects in Couples with Repeated Pregnancy Loss

Abstract

Background: Several genetic mutations in female thrombotic defects have recently been shown to affect recurrent pregnancy loss (RPL); however, it is unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss RPL.

Aims: In this study, the prevalence of some combined parental thrombophilia gene mutation defects was studied in couples with RPL.

Settings and design: The observational study was done in babol infertility research center (Iran) in 2022.

Materials and methods: Sixty-two infertile women with a history of RPL and their male partners (124 individuals) participated in this study. The frequencies of common defects associated with methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, factor V Leiden, protein C, protein S and homocysteine were analysed in these couples.

Statistical analysis used: The data were statistically analysed using the Mann-Whitney test.

Results: Sixty-two couples (124 individuals) were analysed. 56.2% of couples with a history of RPL had MTHFR C677T and 23.1% had MTHFR A1298C. Forty percent of couples showed homocysteine deficiency and 12.5% protein C deficiency. Other genes tested were only observed in the mother or father but not both.

Conclusions: Results obtained with RPL couples demonstrate the importance of further investigating combined parental thrombophilia gene mutation defects (not only maternal).

Keywords: Factor V Leiden; homocysteine; pregnancy; protein C; thrombophilia.