The importance of MTHFR gene mutation detection in patient with recurrent miscarriages

Abstract

Homocysteine is an enzyme encoded by MTHFR (methylenetetrahydrofolate reductase) gene located on chromosome 1. Mutations in MTHFR gene may result in the afflicted metabolism of homocysteine and thus might increase the risk of recurrent miscarriages. In some cases, recurrent pregnancy loss could be prevented by prescribing folic acid and B group vitamin supplements. The demand of MTHFR gene sequencing for variations is commonly overlooked by doctors or genetic counsellors. To highlight this problem we present a case study of recurrent miscarriages in a patient with a homozygous c. 655C > T variation in MTHFR gene. Moreover, we discuss the need of molecular genetic testing for MTHFR gene variations in patients with recurrent miscarriages and the treatment of hyperhomocysteinemia.