HEALTH OF WOMAN. 2016.1(107):99–102 
 

The frequency of the C677T polymorphism of the MTHFR gene in women with neural tube defects in the fetus and individual aproaches to the prevention of preconception 
 

Veropotvelyan N. P., Kodunov L. A., Pogulyay J. S.

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

The article describes the modern vision of the possible mechanisms of the effect of abnormal folate deficiency and C677T polymorphism on the occurrence of neural tube defects. 
 

Goal of the study. Define a relationship of occurrence of NTDs in fetuses with the presence of a genetic defect (C677T MTHFR) in women from Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy regions of Ukraine. 
 

Materials and methods.There were definined the polymorphic variants C677T MTHFR in 149 women who had a fetus with a neural tube defect (NTD). As controls, two groups were formed: 1) 112 phenotypically healthy newborns. 2) 114 women with one or more healthy child; 
 

Results. According to the evaluation of statistical significance of differences of samples genotype T/T 677 MTHFR was significantly (p<0.01) in 9.91 times more common among women with NTDs than women with healthy children. It was also revealed that the genotype T/T 677 MTHFR was significantly (p<0.01) in 6.59 times less common among women with healthy children, compared with the general population. 
 

Conclusion. The odds ratio calculation was showed that the risk of having a baby with a NTD 12-fold increased in the presence of a genotype T/T (OR=11.837). 
 

Key words: neural tube defect, folate, folate cycle, genetic polymorphism. 
 

REFERENCES

1. Veropotvelyan NP, Kodunov LA 1999. Comparative analysis of the effectiveness of prenatal ultrasound screening in reducing the prevalence of malformations of the Central nervous system among newborns in various countries around the world. Collection of scientific works of employees KMAPE them. PL Shupyk. K. Book 2.

2. Czeizel E. 2012. Primary prevention of birth defects: multivitamins or folic acid? Gynecology 5:38-46.

3. CDC. 2005. Medical progress in the prevention of neural tube defects. Available at: http: //www. cdc. gov/ncbddd/bd/mp.htm National Center on Birth Defects and Developmental Disabilities. Accessed on 3/15/2009

4. Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, Rozen R, Jr Oakley GP, Jr Adams MJ. 1996. 5,10 Methylene-tetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defect. Am. J. Med. Genet:610–614. http://dx.doi.org/10.1002/(SICI)1096-8628(19960628)63:4<610::AID-AJMG15>3.3.CO;2-Y; http://dx.doi.org/10.1002/(SICI)1096-8628(19960628)63:4<610::AID-AJMG15>3.0.CO;2-L

5. Perspectives of medical genetics. Edited by Bochkov NP. M. 1982.

6. Murphy EA, chase GA 1979. The basis of medico-genetic counseling. M.

7. Stevenson A, Davidson, B 1972. The genetic counseling. M.

8. Shookhoff JM, Ian Gallicano G. New Perspective on Neural Tube Defects: Folic Acid and MicroRNA Misexpression. http: //www. ncbi. nlm. nih. gov/ pubmed/ 20229516.

9. Boot MJ, Steegers-Theunissen RPM, Poelmann RE, Iperen LV. 2003. Folic acid and homocysteine affect neural crest and neuroepithellial cell outgrowth and differentiation in vitro. Dev Dyn. 227(2):301–8. PubMed. http://dx.doi.org/10.1002/dvdy.10303; PMid:12761857

10. Shookhoff JM, Ian Gallicano* G. A New Perspective on Neural Tube Defects: Folic Acid and MicroRNA Misexpression/ http: //www. ncbi. nlm. nih. gov/pubmed/20229516/

11 a. Copp AJ. The genetic basis of mammalian neurulation/ AJ Copp, ND Greene, JN Murdoch. Nat Rev Genet. 2003;4:784–792. http://dx.doi.org/10.1038/nrg1181; PMid:13679871

11. Copp AJ, Greene ND, Murdoch JN. 2003. The genetic basis of mammalian neurulation. Nat Rev Genet. 4:784–792. http://dx.doi.org/10.1038/nrg1181; PMid:13679871

12. Mathers JC. 2005. Reversal of DNA hypomethylation by folic acid supplements: Possible role in colorectal prevention. Gut. 54:579–581. http://dx.doi.org/10.1136/gut.2004.059881; PMid:15831897 PMCid:PMC1774491

13. Simpson JL. 1985. Genetics in obstetrics and gynecology. M.

14. Bitsadze VO, Makatsaria AD. 2007. Principles of prevention of development of neural tube defects of the fetus. Pharmateca. 1(136).