Abstract
BackgroundThe true relationship between methylenetetrahydrofolate reductase C677T homozygosity and risk of recurrent spontaneous abortion is unknown, and it is unclear if women with these mutations should be anticoagulated during pregnancy.ObjectivesWe report a series of 8 patients with this issue and review the current literature.Methods8 patients (3 of whom were actively pregnant) were referred with histories of spontaneous fetal loss; hypercoaguability work-ups revealed each were homozygous for the MTHFR C677T mutation without other thrombophilias.ResultsIn the 3 women who have conceived, treatment with LMW heparin during pregnancy led to two full-term births and one additional pregnancy without complication. For the 5 who have not, we recommended treatment with LMW heparin upon conception.ConclusionWe provide evidence to support the relationship between MTHFR C677T mutations and recurrent fetal loss, and to suggest that anticoagulation of these patients during pregnancy can lead to a successful pregnancy outcome.
Highlights
The true relationship between methylenetetrahydrofolate reductase C677T homozygosity and risk of recurrent spontaneous abortion is unknown, and it is unclear if women with these mutations should be anticoagulated during pregnancy
We provide evidence to support the relationship between methylenetetrahydrofolate reductase (MTHFR) C677T mutations and recurrent fetal loss, and to suggest that anticoagulation of these patients during pregnancy can lead to a successful pregnancy outcome
There is growing evidence that thrombophilia defects can impact pregnancy outcomes. It is already well-known that the acquired thrombophilia of the antiphospholipid syndrome, seen with lupus anticoagulant and/or anticardiolipin antibody seropositivity, is strongly associated with recurrent fetal loss[1]. Various hereditary thrombophilias such as activated protein C resistance, the factor V leiden mutation, the prothrombin G20210A mutation, protein S deficiency, the methylenetetrahydrofolate reductase (MTHFR) C677T mutation, hyperhomocysteinemia, or combinations of the above disorders have been linked to pregnancy loss at varying stages of gestation
Summary
The true relationship between methylenetetrahydrofolate reductase C677T homozygosity and risk of recurrent spontaneous abortion is unknown, and it is unclear if women with these mutations should be anticoagulated during pregnancy. There is growing evidence that thrombophilia defects can impact pregnancy outcomes. It is already well-known that the acquired thrombophilia of the antiphospholipid syndrome, seen with lupus anticoagulant and/or anticardiolipin antibody seropositivity, is strongly associated with recurrent fetal loss[1]. Various hereditary thrombophilias such as activated protein C resistance, the factor V leiden mutation (both homozygosity and heterozygosity), the prothrombin G20210A mutation, protein S deficiency, the methylenetetrahydrofolate reductase (MTHFR) C677T mutation, hyperhomocysteinemia, or combinations of the above disorders have been linked to pregnancy loss at varying stages of gestation [2,3].
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