Inherited Thrombophilia: Impact on Human Reproduction


Address reprint requests to Christian J. Thaler MD, Department of Obstetrics and Gynecology, Klinikum der Universität München – Großhadern, 81377 München, Germany.


The development of thrombotic disorders is a major threat for young women during pregnancy. It is one of the main causes of pregnancy-related disorders, which may also result in harm for the conceptus. Successful pregnancies require an even balance of coagulation and fibrinolysis, in order to secure stabilization of the basal plate as well as adequate placental perfusion. Thrombophilia is a laboratory definition for pre-disposing factors of thrombosis, which can be inherited or acquired. Many individuals, who carry a thrombotic defect remain asymptomatic, at least until additional boosting factors arise. The documentation of thrombophilic causes of recurrent miscarriage or pregnancy-related disorders is important, because of availability of effective early treatment. There is a rapidly growing awareness on the relationship of genetic factors influencing hemostasis and pregnancy-related disorders. The aim of our review is to summarize this knowledge, focusing on common genetic variations.