Application of dried blood spot in newborn screening for inherited metabolic diseases
10.3760/cma.j.issn.1009-9158.2015.04.002
- VernacularTitle:干血斑用于新生儿遗传代谢病筛查的方法学进展
- Author:
Yifei DUAN
;
Yali CUI
;
Yongmei JIANG
- Publication Type:Journal Article
- Keywords:
Metabolism,inborn errors;
Dried blood spot testing;
Neonatal screening;
Tandem mass spectrometry
- From:
Chinese Journal of Laboratory Medicine
2015;38(4):220-222
- CountryChina
- Language:Chinese
-
Abstract:
Neonatal inherited metabolic diseases are a group of metabolic disorders caused by singe gene defect to cause a series of clinical symptoms.Neonatal dried blood spots have the advantages of simple preparation,safety,good stability,and show strong practicability in different screening methods for inherited metabolic diseases.With the development of screening methods,more and more diseases could be diagnosed by screening.The emergence of tandem mass spectrometry and molecular biological techniques promote the newborn screening and automation for inherited metabolic disease effectively.Inherited metabolic diseases induce great harm to the newborn,which could cause not only system organs damage,but also lead to death.Therefore,early screening is important for patients' prognosis.
