• Ann Acad Med Singap · Dec 2008

    Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.

    • Xuefan Gu, Zhiguo Wang, Jun Ye, Lianshu Han, and Wenjuan Qiu.
    • Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. guxuefan@online.sh.cn
    • Ann Acad Med Singap. 2008 Dec 1; 37 (12 Suppl): 107-4.

    AbstractThis 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.

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