Testing for inherited thrombophilia in recurrent miscarriage

Area of Science:

• Reproductive Medicine
• Hematology
• Genetics

Background:

• Recurrent miscarriage (RM) affects 1-5% of women trying to conceive.
• In 50% of RM cases, the etiology remains unknown.
• Inherited thrombophilias are potential, though weakly associated, risk factors for RM.

Purpose of the Study:

• To evaluate the association between inherited thrombophilias and recurrent miscarriage.
• To assess the evidence for anticoagulant treatment improving live birth rates in women with RM.
• To determine the clinical utility of routine inherited thrombophilia screening in RM.

Main Methods:

• Review of current scientific literature on inherited thrombophilias and recurrent miscarriage.
• Analysis of the strength of association between thrombophilias and RM.
• Evaluation of evidence regarding anticoagulant therapy efficacy in RM.

Main Results:

• A weak association exists between inherited thrombophilias (e.g., Factor V Leiden, PT 20210A, Protein C/S, Antithrombin deficiencies) and recurrent miscarriage.
• No robust evidence demonstrates that anticoagulant treatment improves live birth chances in women with RM.
• Current evidence does not support routine screening for inherited thrombophilia in RM.

Conclusions:

• Testing for inherited thrombophilia in women with recurrent miscarriage should not alter clinical management.
• Routine screening for inherited thrombophilia is not recommended for women experiencing recurrent miscarriage.
• Genetic testing for thrombophilia in RM should be confined to research settings.