Problems and reflection on the screening and diagnosis for disease of newborn
10.3760/cma.j.issn.1009-9158.2015.04.001
- VernacularTitle:新生儿疾病筛查和诊断的发展及存在的问题与思考
- Author:
Shiqiang SHANG
;
Jianbin YANG
- Publication Type:Journal Article
- Keywords:
Neonatal screening;
Quality control;
Metabolism,inborn errors;
Tandem mass spectrometry
- From:
Chinese Journal of Laboratory Medicine
2015;38(4):217-219
- CountryChina
- Language:Chinese
-
Abstract:
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.
