新生儿疾病筛查和诊断的发展及存在的问题与思考

摘要

新生儿疾病筛查在我国出生缺陷三级防控体系中起着重要的作用.随着新生儿疾病筛查参与医疗机构和筛查病种的增多,需进一步加强和完善新生儿疾病筛查和诊断的质量管理体系,包括重视实验前质量管理、做好实验中的室内质控和室间质评以及筛查阳性召回随访及诊治.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提高了新生儿筛查的能力和效率;分子诊断技术应用于临床的快速发展将面临很多新的挑战和问题.%Newborn screening plays an important role in the 3-tiered system of prevention and control for birth defects in China.With the rapid development of newborn screening and diagnosis,quality control system including internal quality control and external quality assessment should be optimized and improved,and attention should be paid to pre-experimental quality control and management of positive patients as well.Widespread application of tandem mass spectrometry in newborn screening and diagnosis for inherited metabolic diseases greatly enhanced the detection capability and efficiency.The rapid development of molecular diagnosis techniques will confront new challenges and troubles.