Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos.

Objective: To assess prevalent 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms in spontaneously aborted embryos.

Design: A retrospectively analyzed, prospectively obtained database.

Setting: Bundang CHA General Hospital and Kangnam CHA Hospital.

Patient(s): Ninety-four spontaneously aborted embryos at <20 weeks of gestational age.

Intervention(s): None.

Main Outcome Measure: Genotype frequency of MTHFR C677T and A1298C polymorphisms in spontaneously aborted embryos.

Result(s): The aborted embryos exhibited both a significantly high frequency of the MTHFR 677CC genotype and a low frequency of the MTHFR 677CT genotype, compared to both the child and the adult control groups, respectively, whereas no significant change in the fetal MTHFR A1298C genotype frequency was observed. The combinative genotype of MTHFR 677CC/1298AC from the abortus had a high prevalence compared to the child controls. Further, the chromosomal integrity of the abortus did not affect the frequency of the MTHFR 677CC and 1298AC genotypes.

Conclusion: Spontaneously aborted embryos have a unique distribution of MTHFR C677T and A1289C polymorphisms, regardless of their chromosomal integrity.