Abstract: China is a country with a high incidence of birth defects. Therefore, prevention and control of birth defects in China is of great significance to improving the quality of the birth population and ensuring the implementation of the birth policy. In recent years, with the emerging of new high-risk factors for birth defects, how to formulate birth defect prevention and control strategies suitable for different regional characteristics in China is a challenge nowadays. Our government has been committed to improving the prevention and control capacity of birth defects, and a series of important progress has been made in this field. The new progress in genetic testing technology and social management in this field are summarized, and the opportunities and challenges in the future are reviewed in this article.