The role of thrombophilia testing in women with adverse pregnancy outcomes

Key content Thrombophilias, whether inherited or acquired, have been linked to adverse pregnancy outcomes, such as pre-eclampsia, placental abruption, fetal growth restriction, stillbirth, thrombosis and recurrent pregnancy loss in many but not all case–control studies. Prospective cohort studies have confirmed that the majority of women who carry inherited thrombophilias do not experience adverse pregnancy outcomes. Thrombophilia testing is expensive and the positive yield of such investigations, in particular with respect to informing management in a subsequent pregnancy, is low. This review critically evaluates the benefit of thrombophilia testing in the obstetric setting and provides guidance with respect to care of women in a subsequent pregnancy following an adverse outcome. Learning objectives To understand the relationship between the various thrombophilias and pregnancy complications. To appreciate the appropriate role of screening for and treating thrombophilias in the context of such pregnancy complications. Ethical issues Should thrombophilia testing following adverse pregnancy outcome be informed by specific factors in the clinical history? Can placental histopathology help guide selection of women requiring further assessment? Thrombophilias may be associated with thromboembolic complications in later life – is it therefore ethical to withhold testing in women with a history of adverse pregnancy outcomes?