Expert consensus on the follow-up of newborn screening for neonatal genetic and metabolic diseases.
10.3760/cma.j.issn.1003-9406.2020.04.002
- VernacularTitle:新生儿遗传代谢病筛查随访专家共识
- Author:
COMMITTEE FOR PROFICIENCY TESTING NEONATAL GENETIC METABOLIC DISEASE SCREENING CENTER NATIONAL HEALTH COMMISSION OF CHINA
1
;
Mingcai OU
;
Jianhui JIANG
;
Zhiguo WANG
Author Information
1. Neonatal Genetic Metabolic Disease Screening Center, National Health Commission of China. zgwang@nccl.org.cn.
- Publication Type:Journal Article
- MeSH:
China;
Consensus;
Follow-Up Studies;
Genetic Diseases, Inborn;
diagnosis;
Humans;
Infant, Newborn;
Metabolic Diseases;
diagnosis;
genetics;
Neonatal Screening
- From:
Chinese Journal of Medical Genetics
2020;37(4):367-372
- CountryChina
- Language:Chinese
-
Abstract:
Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases, which can directly influence the detection, diagnosis, efficacy of treatment, as well as the quality of neonatal screening. In view of the lack of follow-up, full understanding, and inconsistent requirement between various agencies and personnel in China, there is an urgent need for standardization. The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion, so as to guide the follow-up work and improve its quality.
