关键词: 新生儿, 筛查, 多学科诊疗

Abstract: Neonatal screening is a three-level prevention of birth defects and one of the important public health projects. Through early diagnosis and treatment， it can reduce the mortality and disability rate， and improve the quality of the birth population. With the advancement of tandem mass spectrometry and gene detection technology， the accessibility of treatments such as enzyme replacement and gene modification has increased， and a few rare genetic diseases have gradually become candidate diseases for neonatal screening. Establishing a multidisciplinary diagnosis and treatment team led by a screening center that is suitable for the screening of rare diseases， providing timely， personalized， professional， and comprehensive one-stop screening， diagnosis， and treatment plans for rare disease patients diagnosed through screening， is the direction of future efforts in neonatal screening.

Key words: newborn, screening, multidisciplinary diagnosis and treatment