Implication of Genetic Factors in Neural Tube Defects Etiology

Neural tube defects are a group of developmental abnormalities that results from failure of fusion of the caudal neural tube, representing one of the most common group of malformations of human structure. The etiology is thought to be multifactorial in the vast majority of the cases, but other possible causes are heterogeneous and include chromosome abnormalities, single gene disorders and teratogenic exposures. However, the exact cause is not known in most cases and etiology remains rather complex and poorly understood. The aim of this study was to provide evidence for a genetic contribution to the etiology of neural tube defects. Multifactorial defects have a significant genetic component that interacts with specific environmental factors. Our study aimed to identify some of these risk factors, but it also established an association between the occurence of neural tube defects with spontaneous abortions, aswell as with other congenital defects, that may be considered markers of early prenatal damage. Concordance of these defects in families also sustained implication of genetic factors in their etiology.