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

摘要： 新生儿筛查是出生缺陷三级预防，是重要的公共卫生项目之一，通过早诊断、早治疗，降低致死、致残率，改善出生人口素质。随着串联质谱及基因检测技术的进步，酶替代及基因修正等治疗的可及性增加，少数罕见遗传病逐步成为新生儿筛查候选病种。建立以筛查中心为主导、与筛查病种相适应的多学科诊疗团队，为筛查确诊的罕见病患儿提供及时、个体化、专业化、全方位的一站式筛、诊、治方案，是未来新生儿筛查努力的方向。

关键词: 新生儿, 筛查, 多学科诊疗