Thalassemia, one of the most common genetic diseases around the world, has a great impact on the human′s health. Thalassemia is particularly prevalent in the regions such as Guangdong, Guangxi and Yunnan of China, and so on. Thalassemia can cause severe pregnancy outcomes and perinatal complications. Thalassemia is classified and diagnosed according to prenatal screening and genetic testing. Strengthen prenatal screening and prenatal diagnosis have a great significance for reducing the birth rate of thalassemia newborns, improving the family life quality and relieving the social economical burden.