title: 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.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Center of Genetic Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.
authors: Hatip
authors: H
authors: Aydin
authors: Department of Perinatology, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.
authors: Resul
authors: R
authors: Arisoy
authors: Center of Genetic Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.
authors: Ali
authors: A
authors: Karaman
authors: Department of Perinatology, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.
authors: Emre
authors: E
authors: Erdoğdu
authors: Center of Genetic Diagnosis, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.
authors: Arda
authors: A
authors: Çetinkaya
authors: Department of Medical Genetics, Faculty of Medicine, Marmara University, İstanbul, Turkey.
authors: Bilge
authors: B
authors: B Geçkinli
authors: Department of Medical Genetics, Faculty of Medicine, Marmara University, İstanbul, Turkey.
authors: Hasan
authors: H
authors: Şimşek
authors: Department of Perinatology, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.
authors: Oya
authors: O
authors: Demirci
mesh_terms: D005260:Female; D005492:Folic Acid; D005838:Genotype; D006710:Homocysteine; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D009436:Neural Tube Defects; D011247:Pregnancy; D011516:Prothrombin; D014805:Vitamin B 12
chemical_list: D006710:Homocysteine; D011516:Prothrombin; D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12
keywords: Folate; homocysteine; neural tube defects; thrombophilia; vitamin B12