Turkish Journal of Medical Sciences
Abstract
Background/aim: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown. Materials and methods: In this study, we compared serum folate, vitamin B12, and homocysteine levels, along with common thrombophilia-related genetic variations, including factor V Leiden, factor II g.20210G>A, MTHFR c.677C>T, and MTHFR c.1298A>C, in 35 pregnant women with fetal NTDs and 38 pregnant women with healthy fetuses. Results: A significant difference in serum vitamin B12 level and factor V Leiden frequency was detected between the two groups. On the other hand, serum folate, homocysteine levels, and factor II g.20210G>A, MTHFR c.677C>T, and MTHFR c.1298A>C were not significantly different in the NTD group compared to the controls. Conclusion: These results indicate that vitamin B12 supplementation along with folate may help in lowering NTD frequency. In addition, this is the first study that provides evidence for a possible relationship between increased NTD risk and factor V Leiden.
DOI
10.3906/sag-1502-128
Keywords
Folate, vitamin B12, homocysteine, thrombophilia, neural tube defects
First Page
489
Last Page
494
Recommended Citation
AYDIN, H, ARISOY, R, KARAMAN, A, ERDOĞDU, E, ÇETİNKAYA, A, GEÇKİNLİ, B. B, ŞİMŞEK, H, & DEMİRCİ, O (2016). Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects. Turkish Journal of Medical Sciences 46 (2): 489-494. https://doi.org/10.3906/sag-1502-128
