我国新生儿遗传代谢疾病筛查进展

Progress in newborn genetic metabolic disease screening of China

新生儿遗传代谢性疾病筛查是现代预防医学的一项重要内容,它是降低出生缺陷提高人口素质的重要措施之一,其包含于世界卫生组织基于降低出生缺陷而提出的"三级预防"体系中。自20世纪80年代初我国开始开展新生儿疾病筛查工作,依据我国新生儿疾病筛查技术规范提出,主要筛查先天性甲状腺功能减低症和苯丙酮尿症两项疾病,迄今已开展了35余年。在这一过程中,新生儿疾病筛查工作取得了相应成绩,但也有一定的问题凸显。现主要对我国新生儿疾病筛查进展进行回顾性分析,讨论其不足,为后续研究提供部分依据。

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 1980s, 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.