Genetic Predispositions to Thrombophilia Associated with Recurrent Pregnancy Loss

Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2008; 5 (2): 101-105

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Keywords: Genetik,  Thrombophilie,  genetic predisposition,  thrombophilia

This review retraces the current state of knowledge on hereditary hypercoagulation conditions causing thrombophilia-associated recurrent fetal loss. Thrombophilias are a major cause of adverse pregnancy outcome, etiological to up to 40 % of cases worldwide. Hereditary thrombophilic predispositions for recurrent pregnancy wastage include genetic mutations in blood coagulation factors II and V, as well as the factor Va protease protein C and its cofactor protein S. Furthermore MTHFR gene variants conferring higher thrombophilia risk in conjunction with the mentioned mutations and the newly described annexin A5 gene promoter alleles are associated with adverse pregnancy outcome. The review gives a brief description of molecular defects associated with these hereditary genetic changes, roles of these factors in different timing and definition of fetal loss and risk estimates from available studies and meta-analyses. This knowledge is instrumental to the more precise estimate of individual risk for repeated pregnancy loss and should guide the adequate therapeutical measures where relevant. The conclusive advice section summarizes a corollary for the clinical practice.