Background: Inherited (hereditary) thrombophilia is a genetic disorder that affects coagulation, being responsible for more than 60% of idiopathic (spontaneous or unprovoked) thromboembolic events. Association of inherited thrombophilia with pregnancy increases the risk of thromboembolic disease, and it may be related to many complications, such as preeclampsia, recurrent miscarriage intrauterine growth restriction, early detachment of placenta, and prematurity.
Areas of uncertainty: Interpretation of a positive test for thrombophilia in pregnant women is difficult because they have many natural changes in the coagulation system. Genetic diagnosis of thrombophilia, after a thrombotic event or during a pregnancy complication, has a major importance, not only to define its etiology but also to determine the duration of anticoagulant treatment and risk stratification for prophylaxis treatment.
Data sources: Literature search was performed using electronic database (PubMed) between April 1981 and November 2018. We used different keywords and MeSH terms to generate the most relevant results related to the inherited thrombophilia and its impact on pregnancy.
Results: Screening for inherited thrombophilia in young women is recommended in case of personal history of venous thromboembolism, first-degree relatives with a history of high-risk thrombophilia, or personal history of second-trimester miscarriage. Decision to recommend thromboprophylaxis with anticoagulant treatment in pregnant women with inherited thrombophilia is determined by history of venous thromboembolism, type and associated risk of inherited thrombophilia, and presence of additional risk factors. Low-molecular-weight heparins are the preferred agents for prophylaxis in pregnancy, while the doses vary depending on thrombophilia type, personal history, and associated risk factors.
Conclusions: Association between 2 procoagulant conditions, inherited thrombophilia and pregnancy, has an important impact for the mother and fetus. This review will summarize the impact of each inherited prothrombotic factor on cardiovascular and pregnancy outcomes and will discuss the role of anticoagulation treatment for women diagnosed with inherited thrombophilia.