Identification of maternal risk factors for having Down syndrome cases in Jordan

Abstract

Down syndrome (DS) is the leading cause of intellectual disability, yet the factors contributing to its occurrence remain largely unknown. In this study, we investigated the genetic influence of the C677T variant in the methylenetetrahydrofolate reductase (MTHFR) gene, alongside maternal age, family history, and miscarriages, on the development of DS. Our findings indicate that the presence of the C677T CT and TT genotypes in the MTHFR gene were associated with a 1.9-fold and 3.4-fold increased risk of DS, respectively, compared to controls. Furthermore, advanced maternal age, family history of DS, and particularly a history of miscarriages were found to significantly elevate the risk of DS. These results highlights the genetic and environmental factors contributing to DS and emphasize the importance of understanding these factors for effective prevention and management strategies.