Abstract: Neonatal genetic metabolic disease screening is an important content of modern preventive medicine, it is one of the important measures to reduce birth defects and improve the quality of the population, and it was contained tertiary prevention system which the world health organization (WHO) suggested basing on reducing birth defects. Since the early 1980 s, China began to carry out the neonatal disease screening work, basing on the technical specifications of neonatal disease screening in China, the main screening diseases contained congenital thyroid function decrease sickness and benzene acetone urine, these screening had conducted more than 35 years. In the process, the corresponding achievements have been made, but there are certain problems. This paper mainly reviews the progress of neonatal disease screening in China, discusses its short comings and provides some basis for future research.