Maternal inherited thrombophilia and recurrent pregnancy loss: a Tunisian study and review of the literature

Abstract

Background: Inherited thrombophilia, mainly the Factor V Leiden (FVL) and Prothrombin mutation (PTM) are the most risk factors for venous thrombosis especially during pregnancy and was strongly associated with recurrent pregnancy loss (RPL), a devastating reproductive problem that affects more than 1% of couples who are trying to conceive. The frequencies also the correlation among these polymorphisms and RPL have been reported controversially in various populations.Objectives: In this study we evaluated the presence inherited thrombophilia amongst 35 Tunisian women with more than 2 miscarriages, referred to our genetic counseling.Methods: DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis ofmutation.Results: FVL and PTM were detected in 5.7 % and 2.9% respectively; in women with a particular history of early fetal loss andthrombotic events.Conclusion: This study emphasizes the importance of testing for FVL and FIIM in women with RPL; mainly in the context of thrombotic events. Multi-center collaboration is necessary to clarify the real impact of thrombotic molecular defects on the pregnancy outcome, to ascertain the effect of inherited thrombophilia on recurrent pregnancy loss and then to evaluate the appropriate therapeutic approach.