Key result
Combined parental thrombophilia gene mutation defects were prevalent in couples with repeated pregnancy loss, including MTHFR C677T (56.2%), MTHFR A1298C (23.1%), and homocysteine deficiency (40%).
Why the study?
While female thrombotic genetic mutations affect recurrent pregnancy loss, it remains unclear which common parental mutations are involved in thrombosis-associated repeated pregnancy loss.
Observational (n=124)
No
Combined parental thrombophilia gene mutation defects, particularly MTHFR C677T and homocysteine deficiency, are prevalent in couples with recurrent pregnancy loss, highlighting the importance of testing both parents.
May support targeted thrombophilia screening in RPL couples; Level 4 data leaves open causal confirmation before practice change.
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).
No takes yet. Share an insight, caveat, or question.
Kashifard et al. (2023) conducted an observational in Repeated Pregnancy Loss (n=124). Combined parental thrombophilia gene mutation defects was evaluated on Prevalence of combined parental thrombophilia gene mutation defects. Combined parental thrombophilia gene mutation defects were prevalent in couples with repeated pregnancy loss, including MTHFR C677T (56.2%), MTHFR A1298C (23.1%), and homocysteine deficiency (40%).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: