Document Type : Review Article


Clinical Medicine, Qingdao Medical College, Qingdao University, Qingdao, China



Autism, as a neurodevelopmental disorder, has become an important public health issue worldwide. The mechanisms by which DNA methylation regulates gene expression contributing to autism are complex and elaborate. As a non-invasive, highly accurate prenatal diagnosis, DNA methylation screening can be used to detect whether the fetus may be at risk for autism. However, the results of this approach require a professional bioinformatics analysis, and the diagnosis cannot be directly confirmed. Therefore, DNA methylation screening is often used as an adjunct to prenatal diagnosis rather than the only diagnostic basis. In practice, doctors will make a comprehensive judgment based on the results of DNA methylation screening, combined with other prenatal diagnosis methods, such as gene sequencing. Some studies have found a large number of DNA methylation abnormalities in the autistic brain, especially in genes related to neurodevelopment. These aberrant DNA methylation states may contribute to autism by affecting the expression of these genes, which in turn affects neuronal function and behavior. This study aimed to investigate the role of DNA methylation in autism and the application of detection techniques.

Graphical Abstract

Advanced Research on DNA methylation testing in screening fetuses for autism spectrum disorder


Main Subjects

Selected author of this article by journal

Dr. Yulu Han
Qingdao University


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