Screening and genetic diagnosis of neonatal inherited metabolic diseases: present and prospects
10.3760/cma.j.cn113903-20210125-00078
- VernacularTitle:新生儿遗传代谢病筛查与基因诊断的现状与展望
- Author:
Yanqin YING
;
Xiaoping LUO
- From:
Chinese Journal of Perinatal Medicine
2021;24(2):85-88
- CountryChina
- Language:Chinese
-
Abstract:
Neonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.
