BRIEF COMMUNICATIONS Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects Seyit Temel Ceyhan a, ⁎ , Cengiz Beyan b , Muhterem Bahce c , Iskender Baser a , Kursat Kaptan b , Ahmet Ifran b , Yonca Egin d , Nejat Akar d a Department of Obstetrics and Gynecology, Gulhane Military Medical Academy, Ankara, Turkey b Department of Hematology, Gulhane Military Medical Academy, Ankara, Turkey c Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey d Department of Pediatric Molecular Genetics, Ankara University, Ankara, Turkey Received 8 August 2007; received in revised form 4 October 2007; accepted 11 October 2007 KEYWORDS Factor V Leiden; MTHFR; Neural tube defects; Pregnancy; Prothrombin; Thrombophilia; Folate 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 pre- disposition, 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 me- thylenetetrahydrofolate 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 the MTHFR C677T mutation was found to be significantly higher in women who experienced pregnancies with NTDs, while occurrence of factor V Leiden and prothrombin 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% in women who experienced pregnancies with NTDs (42.9% in the control group). The presence of MTHFR C677T had 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 gene G20210A, 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). 0020-7292/$ - see front matter © 2007 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ijgo.2007.10.006 available at www.sciencedirect.com www.elsevier.com/locate/ijgo International Journal of Gynecology and Obstetrics (2008) 101, 188–204