• C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus

C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus

HEALTH OF WOMAN.2016.7(113):156–158; doi 10.15574/HW.2016.113.156 

C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus

N.P. Veropotvelyan, Y.S. Pogulyay, D.A. Nesterchuk, M.N. Sviridov

The «Inter-provincial center of medical genetics and prenatal diagnosis», Krivoy Rog

MI «1-st city hospital, Krivoi Rog» DRC

The article presents the data of its own investigation to determine the existence of relationship formation chromosomal aberrations in the fetus with the mother’s genotype polymorphism C677T MTHFR.

Materials and methods. Two groups were formed: 1 group – of women with chromosomal abnormalities in the fetus (n=131); 2 group the fruits that have been identified with the use of СA prenatal karyotyping (n=110). By way of comparison groups used women with karyotyped fruits without chromosomal abnormalities (n=139). Control group consisted of 114 healthy women who have one or more of a healthy child. In all groups performed the definition of polymorphism C677T MTHFR.

Results. The genotype of C/T was significantly (p<0.01) 1.33 times more common in the group of women who had a fetus with normal karyotype and a control group of women, against women who had a fetus with CA. Genotype T/T was significantly 6.3 times (p<0.01) is more common in women selected for the prenatal diagnosis compared with women in the control group. When calculating the odds ratio shows that the risk of having a fetus with signs of chromosomal aberrations increased 7-fold (OR=7.000) in women with genotype T/T 677 MTHFR.

Conclusion. Homozygous genotype for the mutant allele of MTHFR C677T T polymorphism in women with a high probability it determines the group at risk of chromosomal abnormalities in the fetus.

Key words: folate metabolism, chromosomal abnormalities.


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