Published: 2021-02-24

Methylen tetrahydrofolate reductase enzyme gene C677T and A1298C mutations in primigravida with first trimester missed abortion: cross-sectional study

Nermeen Mohamed Hefila


Background: This work aimed to correlate between MTHFR C677T and A1298C genes (methylenetetrahydrofolate reductase) mutation and first trimester missed abortion in primigravida to identify pregnant ladies who need anticoagulation therapy to improve pregnancy outcome. The conducted study was a cross-sectional study. Data were collected from females recruited from EL Shatby hospital, Alexandria, Egypt. The present study was done on 40 primigravida females recruited from EL Shatby hospital.

Methods: All participating women were primigravida in their first trimester with missed abortion. Blood specimens were collected from all cases involved in the study for DNA extraction and genotype analysis based on PCR and reverse hybridization. The mutations studied are the MTHFR C667T and A1298C genes. Main outcome measures: The MTHFR C667T mutations in our study is not significantly related to abortion in primigravida while MTHFR A1298C mutations prevalence were appeared significantly have a relation to abortion.

Results: In the current study, the prevalence of MTHFR A1298C mutations was in 52.5% of cases, with homozygosity in 15 % of cases and heterozygosity in 37.5% of cases. However, the total prevalence of the MTHFR C667T gene mutations was 30% of cases only and all are heterozygous. Four cases were prevalent with combined thrombophilia (MTHFR C677T and A1298C) in the participating cases. Finally, the number of individuals were assessed for each of the gene mutations based on of homozygous or heterozygous. No homozygous cases were detected for MTHFR C667T gene mutation.

Conclusions: In this current study, there is an association between miscarriage and thrombophilia.


MTHFR A1298C, Missed abortion, MTHFR C677T, Primigravida, Thrombophilia

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