1、Technical Name:Neonatal screening
2、Technical Introduction:Neonatal screening is a general investigation for every newborn by advanced experimental techniques. Namely, every newborn with fully breast-feeding in 72 hours and subsequent time after birth is collected his/her heel blood by dropping on filter paper. The biological specimens are stored at the low temperature environment of 4 degree and detected by the newborn screening center with regular delivery. The positive children will be treated timely by the specialists and a lone-term follow-up after diagnosis.
3、Current Situation And Achievements:Our Center was launched firstly the newborn screening project in Jiangsu province in 1985, mainly including three diseases: hyperphenylalaninemia (HPA), congenital hypothyroidism (CH), and congenital adrenal hyperplasia (CAH). After acceptance and evaluation by Jiangsu Province Health Department in 2002, our center is now a quality control center of neonatal screening and a branch chairman unit in neonatal screening of Jiangsu province association of improving birth of outcome and child development. Taken Nanjing maternity and child health care hospital as a core, our center is radiated in various confinements in the whole city with the coverage of 100% and the screening rate of over 98%. The tandem mass spectrometry newborn screening program was carried out at the end of 2013, expanding newborn diseases screening to 29 species.
4、Future Outlook:The tandem mass spectrometry newborn screening program will be promoted to the whole city, and urinary gas chromatography/mass spectrometry and gene diagnosis of inherited metabolic diseases will be established gradually. A complete system, involving newborn screening for inherited metabolic disease, diagnosis and treatment (including genetic diagnosis and classification) and prenatal diagnosis, will be established.