Which Investigations are Relevant?

Potential risk factors for a subsequent miscarriage can be identified in women with preceding recurrent miscarriage (RM). Presently, many diagnostic interventions for women or couples with RM are controversial because there is no information available with regard to prognosis and lack of evidence of potential treatment options in case of positive test results. This chapter deals with the diagnostic investigations testing for thrombophilia, chromosome abnormalities, uterine abnormalities, and thyroid autoimmunity in women with RM. Only testing for antiphospholipid antibodies is recommended in daily clinical practice since a beneficial effect of anticoagulant treatment has been described. Testing for inherited thrombophilia, uterus anomalies, and thyroid autoimmunity is recommended within the setting of clinical trials. RM is associated with carrier status in one of the partners, most frequently balanced chromosome translocations followed by chromosome inversions. One of the reasons to offer karyotyping is to identify an underlying reason for the miscarriages.