The objective of this study was to assess the relationship between hereditary thrombophilias and pregnancy complications. This study included Factor V Leiden, prothrombin gene mutation and deficiencies of protein C, protein S and antithrombin. The included adverse pregnancy outcomes were fetal death, recurrent pregnancy loss, preeclampsia, growth restriction and abruptio placenta.
A review of the literature was done by searching PubMed and including case-control studies and cohort studies that investigated this relationship. Meta-analyses were also included.
Case-control studies have shown that Factor V Leiden and the prothrombin gene mutation may be associated with recurrent pregnancy loss and fetal death. Women with Factor V Leiden and prothrombin mutation do not have an increased risk for preeclampsia or growth restriction. The cohort studies that have evaluated the association between Factor V Leiden or prothrombin mutation and placental abruption have been underpowered to detect a significant association that was discovered by case-control studies.
An association between protein S deficiency and both recurrent pregnancy loss and fetal death has been demonstrated. However these studies are of poor quality. No such association was found with antithrombin deficiency or protein C deficiency. No association was found between deficiency of protein S, protein C or antithrombin and preeclampsia or placental abruption. There are no studies with acceptable quality that assess whether these thrombophilias are associated with intrauterine growth restriction.
It is an urgent need for more studies to elucidate the relationship between hereditary thrombophilias and pregnancy complications.