Newborn disease screening is an effective preventive measure to improve the quality of the birth population and reduce birth defects, and has been included in the national health law in Europe, America, Japan and other developed countries, with a coverage rate of nearly 100%. China’s newborn disease screening began in 1981, and the Law of the People’s Republic of China on Maternal and Infant Health Care promulgated in October 1994 clearly states that newborn disease screening is gradually being promoted nationwide. However, there are still some parents who do not give their newborn children this screening because they do not know about it, resulting in some children delaying the golden time of diagnosis and treatment. For the healthy growth of each child, every medical staff and parents should be aware of the relevant knowledge. I. Management of neonatal disease screening 1. The concept of neonatal disease screening Neonatal disease screening is a maternal and infant health care technology that provides early diagnosis and treatment by performing special tests for congenital and genetic diseases that pose serious health risks to newborns during the neonatal period. The majority of newborns in China are screened for congenital hypothyroidism, phenylketonuria and other genetic metabolic diseases, and hearing impairment. (1) The screening procedure for neonatal genetic metabolic disorders includes blood film collection, testing, laboratory testing, confirmation of positive cases and treatment. (2) Newborn hearing screening procedures include initial screening, re-screening, positive case confirmation and treatment. Phenylketonuria is a relatively common autosomal recessive disorder caused by an enzyme defect in the phenylalanine metabolic pathway in the body. The accumulation of high concentrations of phenylalanine and its metabolites in the affected children can lead to brain tissue damage. The prevalence is about 1:10,000 in China, and is higher in northern than southern populations. Congenital hypothyroidism is a condition in which the congenital thyroid gland does not produce enough thyroxine, causing growth retardation and mental retardation due to congenital defects in thyroid development. The prevalence rate in China is about 1:5000. III. Neonatal hearing screening Neonatal hearing screening refers to the use of otoacoustic emission method, the initial hearing screening of all newborns within 3 days after birth, if they do not pass then they will be re-screened within 42 days of birth, if they still do not pass then the diagnosis will be confirmed using techniques such as auditory brainstem evoked potentials. If the diagnosis of congenital hearing impairment is confirmed, interventions should be performed within 6 months of birth.