Thrombophilia is defined as a tendency to thrombosis. The association between specific thrombophilic defects--both inherited and acquired--and pregnancy loss is a rapidly developing field. However, apart from antiphospholipid antibodies (aPL), an acquired thrombophilic defect, the role of other defects in the haemostatic pathways remains to be established. In this invited review we discuss the recent advances in our understanding of aPL related pregnancy loss, the association between genetic thrombophilic mutations and pregnancy outcome and the role of whole blood haemostasis testing in the investigation of women with recurrent miscarriage.