摘要
出生缺陷是日益突出的公共卫生和社会问题.新生儿筛查是我国出生缺陷三级防控体系的重要组成部分,是提高儿童健康水平和生活质量的重要技术保证.遗传代谢病的实验室筛查和诊断是新生儿筛查的主要内容之一.质谱技术、尤其是串联质谱技术在遗传代谢病筛查和诊断中的广泛应用极大地促进了新生儿筛查的能力和效率.PCR、Sanger测序、高分辨率熔解曲线分析、多重连接依赖探针扩增技术等中低通量分子诊断技术逐渐成为遗传代谢病筛查和诊断工作的重要内容.下一代测序技术等高通量基因组分析技术将对新生儿筛查工作产生深刻而长远的影响,但此类技术须经严格的技术验证和评价后方能应用于新生儿遗传代谢性疾病的筛查和诊断.
Birth defect is increasingly an issue of public health and social concern.Newborn screening is the principal content of 3-tiered system of prevention and control for birth defects in China,which plays an important role in promotion of children＆#39;s health and welfare.Widespread application of mass spectrometry,esp.,tandem mass spectrometry in newborn screening of inherited metabolic diseases has greatly contributed to the increased detection capability and efficiency.Low and medium throughput molecular diagnostic techniques including PCR,Sanger sequencing,high resolution melting analysis,and multipleligation dependent probe amplification are widely applied in diagnosis and discrimination of inherited metabolic diseases.Application of next generation sequencing in newborn screening is emerging,and will undoubtedly revolutionize the arena of newborn screening in future.However,vigorous validation and performance evaluation are warranted before it＆#39;s applied in newborn screening for inherited metabolic diseases.
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2014年第4期248-251,共4页
Chinese Journal of Laboratory Medicine
基金
新一轮上海市卫生系统优秀学科带头人培养计划资助课题（XBR2011046）
关键词
代谢缺陷
先天性
新生儿筛查
串联质谱法
Metabolism,inborn errors
Neonatal screening
Tandem mass spectrometry
