Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects. As of 2022, 31 provinces (autonomous regions and municipalities directly under the central government) have carried out NBS for phenylketonuria, congenital hypothyroidism, and hearing loss, 23 provinces have carried out screening for glucose-6-phosphate dehydrogenase (with a screening rate of 89.24%), and 24 provinces have carried out screening for congenital adrenal cortical hyperplasia (91.45% screening rate). Over the past four decades, screening techniques have evolved from bacterial inhibition, fluorescence analysis, and tandem mass spectrometry for the detection of biochemical markers to genetic testing, which has greatly contributed to the expansion of the types of diseases screened for. The combined use of metabolomics and genomics is currently being explored. Effective management and rigorous quality control of NBS are prerequisites for improving the quality and ensuring the accuracy of screening. The Quality Management System for Newborn Screening System Network (QMS-NBS), established by the National Center for Clinical Laboratories, covers all screening centers and related blood collection agencies. The operation of the QMS-NBS allows the quality and performance of screening to be transparent and measurable, ensuring the quality and efficiency of screening. This article provides an overview of the history of NBS, especially the evolution of policies for the NBS in China, the construction of screening institutions, the number of newborns screened, the incidence rates of screened diseases, the changes in screening technology, the expansion of new diseases screened for, and the quality control of NBS. Overall, the progress in NBS in China has not only benefited from the development and standardization at the technological level, but also benefited from the construction of policies, regulations and ethics.
新生儿筛查（NBS）对于降低出生缺陷的危害具有重要意义。中国的NBS起步于20世纪80年代初期，在法律法规的保障和国家卫生行政管理部门的主导下，经批准设立于公立医院的NBS中心集宣传、筛查、诊治、随访、管理功能于一体。截至2022年，全国31个省（自治区、直辖市）在新生儿中均开展了苯丙酮酸尿、先天性甲状腺功能减退症的筛查（筛查率为97.9%），23个省（自治区、直辖市）开展葡萄糖-6-磷酸脱氢酶缺乏症筛查（筛查率为89.24%），24个省（自治区、直辖市）开展先天性肾上腺皮质增生症（筛查率为91.45%）。四十年来，筛查技术从生化指标检测的细菌抑制法、荧光分析法、串联质谱法发展到基因检测，极大推动了筛查病种的扩展，目前正在探讨NBS中代谢组学与基因组学的结合运用。由国家检验中心建立的NBS系统网络质量管理体系（QMS-NBS）覆盖所有筛查中心和相关采供血机构，QMS-NBS的运行可使筛查质量和绩效可视化、可测量化，保证了筛查的质量和效率。本文就NBS的历史，特别是中国NBS的政策演变、筛查机构建设情况、一些新生儿疾病筛查数及发病率、筛查技术的变化与筛查新病种的扩展和NBS质量控制等作一综述，提示中国NBS进步不仅得益于技术的研发和标准化，更得益于相关政策、法规和伦理的建设。.
Keywords: Newborn diseases; Newborn inherited metabolic diseases; Newborn screening; Review; Tandem mass spectrometry.