Inherited and Acquired Thrombophilia in Pregnancy

The thrombophilia represent a spectrum of coagulation disorders associated with a predisposition for thrombotic events (deep vein thrombosis (DVT) and pulmonary embolism (PE)) (Kaandorp et al, 2009). Inherited thrombophilia include a single-point mutation on the Factor V gene (factor V Leiden (FVL), prothrombin (PT) G20210A gene mutation, deficiencies in protein C and protein S as well as antithrombin (AT) deficiency. The most entrenched acquired thrombophilia is the antiphospholipid syndrome (APS). APS is a non-inflammatory auto-immune disease characterised by thrombosis or pregnancy complications in the presence of antiphospholipid antibodies (Urbanus et al, 2008). Recognized obstetric complications include fetal loss, recurrent miscarriage, intrauterine growth restriction (IUGR), pre-eclampsia and preterm labour (Lassere and Empson, 2004). The association between the diverse group of thrombophilias and adverse pregnancy outcome has been studied for over 40 years with numerous studies identifying varying coagulation defects. A meta-analysis assessing the impact of thrombophilia and fetal loss described varying outcomes and concluded that positive or negative associations were dependent on the type of thrombophilia (Rey et al, 2003). This chapter will focus on inherited and acquired thrombophilia in pregnancy, except for the antiphospholipid syndrome, which is extensively described in other chapters.