The Retrospect And Prospect Of Newborn Screening For Inherited Metabolic Disease In Jiangxi Province Over Two Decades

Neonatal genetic metabolic disease screening refers to the health care institution using rapid,simple and sensitive test methods in the neonatal group screens the congenital,genetic disease which harm to children's lives,leading to physical and mental development of children.The purpose of the Neonatal genetic metabolic disease screening is to give early diagnosis,effective treatment,and to avoid the body organs of the irreversible damage,to protect the normal physical and intelligent development of the children suffering from inherited metabolic diseases,whose body biochemical,hormone levels have been significantly changed before with the emergence of clinical symptoms.The newborn metabolic diseases screening was carried out in Jiangxi Province in 1997,including hyperphenylalaninemia and congenital hypothyroidism.Jiangxi Province Screened for glucose-phosphate dehydrogenase since 2002 and congenital adrenal hyperplasia since 2011.Jiangxi Province has developed to using the MS-MS to Newborn screening for more than 40 kinds of inherited metabolic diseases in 2015.After 20 years of exploration and development,the screening rates,screening of disease,and screening methods have made great progress and gotten good benefits.The neonatal genetic metabolic disease screening can reduce birth defects,improve the quality of births,prevent the mortality,and disabilities associated with an inherited metabolic disorder.It has become a main mean of three-level prevention.This paper reviews the retrospect and prospect of newborn screening for inherited metabolic disease in Jiangxi Province over 20 years.