Hereditary thrombophilia and recurrent pregnancy loss: is it time to reassess routine genetic testing?

Aims: Hereditary thrombophilias are genetic conditions that increase thromboembolic risk, with heightened thrombotic potential during pregnancy due to the associated hypercoagulable state. These conditions are recognized as significant risk factors for recurrent pregnancy loss (RPL), defined as the loss of two or more consecutive pregnancies before the 20th gestational week, affecting approximately 1-2% of women of reproductive age. RPL is multifactorial, influenced by genetic, environmental, and hormonal factors, with advanced maternal age and previous pregnancy loss being prominent risk factors. While the role of hereditary thrombophilias in adverse pregnancy outcomes remains controversial, studies have reported inconsistent findings regarding their association with RPL. Methods: This retrospective cohort study included 736 women with a history of RPL and aimed to investigate the relationship between genetic thrombophilia variants and recurrent pregnancy loss, focusing on their impact on miscarriage risk. Genetic testing using PCR panels identified common mutations such as Factor V Leiden, MTHFR, PAI-1, and prothrombin G20210A. Results: Statistical analyses revealed no significant associations between these variants and RPL. Conclusion: The findings suggest that, despite the prevalence of certain mutations, their contribution to miscarriage risk may be limited, underscoring the importance of selective genetic testing. This study highlights the need to optimize genetic screening practices to avoid unnecessary testing and reduce healthcare costs, supporting a more targeted approach in managing patients with RPL.