Abstract
The methylenetetrahydrofolate reductase (MTHFR) gene encodes an enzyme called MTHFR involved in the processes of DNA methylation and chromosome segregation. MTHFR polymorphisms are associated with DNA methylation disorders including congenital malformations and chromosomal abnormalities, and various obstetrical complications such as miscarriage, fetal growth retardation, preeclampsia, preterm labor, etc. Herein, we have reported a patient with compound heterozygous MTHFR polymorphisms in whom different type of adverse pregnancy outcomes (1. blighted ovum, 2. preterm delivery, and 3. pregnancy with a fetus having anencephaly and meningocele going together with 46, XX, del (13) (q22)) were observed in her previous 3 pregnancies. She was referred to our hospital during her third pregnancy for prenatal diagnosis. Her fourth baby was born healthy at 37th gestational week after having necessary precautions. Low dose low molecular weight heparin and low-dose acetylsalicylic acid were added to patient-specific management protocol immediately after the confirmation of her fourth pregnancy. In conclusion, DNA methylation enzyme pathway disorders are associated with adverse gestational outcomes.
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