title: Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.
abstract: This study was to investigate the current status of neonatal screening in China, to further clarify the incidences of hyperphenylalaninemia (HPA) and congenital hypothyroidism (CH). From 2000 to 2007, a total of 17,961,826 newborns had been screened for HPA and 1527 cases were detected, giving a HPA prevalence of 1:11,763. At the same time, 18,284,745 newborns had also been tested for CH, with 8918 cases being detected (1:2050). It is remarkable that the mean number of newborns screened per year had increased 5 times between 2000 and 2007. In Shanghai, 116,000 newborns were screened using tandem mass spectrometry and 6 different were detected. The overall prevalence of an inborn errors of metabolism identified was 1 in 5800 healthy newborns, with hyperphenylalaninemia being the most common. Neonatal screening had developed rapidly in China in recent years, and a pilot study using tandem mass spectrometry has been started. The biggest challenge is still to increase coverage to the entire country, especially in the mid-western area.
authors.affiliation: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. guxuefan@online.sh.cn
authors.forename: Xuefan
authors.initials: X
authors.lastname: Gu
authors.forename: Zhiguo
authors.initials: Z
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.forename: Lianshu
authors.initials: L
authors.lastname: Han
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Qiu
mesh_terms: D002681:China; D003409:Congenital Hypothyroidism / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010661:Phenylketonurias / Q000175:diagnosis*