Inherited Thrombophilia and Recurrent Pregnancy Loss

Recurrent pregnancy loss (RPL) affects 1–3 % of women of reproductive age, which is a stressful condition for married couples. Unfortunately, in many cases the exact etiology re-mains undetermined. Thrombophilic gene polymorphism is a known risk factor for recurrent pregnancy loss (RPL). There are a lot of studies on the association between thrombophilia gene polymorphism. Hereditary thrombophilia comprise a number of conditions, such as antithrombin (AT) III deficiency, protein S (PS) and protein C (PC) deficiencies, factor V Leiden, pro-thrombin 20210A mutation, elevated factor VIII level, and mu-tation of gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR). These mutation increases prothrombin levels, which in turn raises the risk for thromboembolism. Two types of polymorphism identified due to low efficiency of the MTHFR enzyme. In homozygous individuals, the efficiency level decreases by 35% from normal. Although not at the same level, the efficiency of the enzyme is also reduced in heterozygote individuals. Therefore, the homocysteine level increases. Also, it has been reported that, during trophoblast invasion, urokinase plasminogen activator receptor and plasminogen activator inhibitor-1 (PAI-1) control proteolysis of structures and remodeling of maternal tissues. RPL could also include pregnancy losses up to gestational week 28 .So, vascular pla-cental pathologies, retarded intrauterine development, such as in preeclampsia, late fetal loss and abruptio placenta can be observed in carriers of these mutations. Subsequent manage-ment of these patients in pregnancy by adequate antithrombotic therapy can be initiated from very early days of pregnancy to prevent placental vasculopathy and coagulation defects, and thereby improve maternal and perinatal outcomes of these preg-nancies to a great extent.

کلیدواژه ها:

Recurrent Pregnancy Loss ، Thrombophilia ، Polymor-phism ، Mutation