Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects

Abstract

Neural tube defects (NTDs) are one of the most common fetal defects. The causes of these defects are considered to have multiple factors involving nutritional deficiencies, genetic predisposition, and environmental factors such as drug exposure [1]. The aim of our study was to investigate the frequencies of thrombophilia-associated gene factor V Leiden mutations and prothrombin gene G20210A mutations, as well as methylenetetrahydrofolate reductase MTHFR C677T mutation which has a substantial role in the folate mechanism of women experiencing pregnancies with NTDs. This study consisted of 2 groups: group 1 consisted of 29 women whose previous pregnancies were complicated with NTDs, and group 2 was the control group consisting of 35 women who experienced uncomplicated pregnancies. The ages of patients in the control group matched with those in the NTD group. Case characteristics are displayed in Table 1. The frequency of theMTHFRC677Tmutationwas found to be significantly higher in women who experienced pregnancies withNTDs,while occurrence of factor V Leiden andprothrombin gene G20210A mutations were not significantly different between the study and control groups. The frequency of both homozygous and heterozygous MTHFR C677T mutation was 69.0% inwomenwho experienced pregnancies with NTDs (42.9% in the control group). Thepresence ofMTHFRC677Thad an odds ratio of 2.96 (95.0%CI, 1.05–8.32) for the development of NTDs. The frequencies of factor V Leiden, prothrombin geneG20210A, and MTHFR C677T mutations and allele frequencies with statistical comparisons are shown in Table 1. A study by Akar et al. [2] showed no relationship between MTHFR C677T mutation and spina bifida. However, they suggested that coexpression of MTHFR A1298C and MTHFR C677T mutations increased the risk of spina bifida. A similar association for NTD cases was reported in another study [3]. ⁎ Corresponding author. Department of Obstetrics and Gynecology, Gulhane Military Medical Academy, Etlik, 06010 Ankara, Turkey. Tel.: +90 312 3045818; fax: +90 312 3045800. E-mail address: temelceyhan@yahoo.com (S.T. Ceyhan).