Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
Ann Acad Med Singap. 2008 Dec;37(12 Suppl):107-4.
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.
本研究旨在调查中国新生儿筛查的现状，进一步明确高苯丙氨酸血症（HPA）和先天性甲状腺功能减退症（CH）的发病率。2000 年至 2007 年，共有 17961826 名新生儿接受了 HPA 筛查，共发现 1527 例 HPA，患病率为 1:11763。同时，还对 18284745 名新生儿进行了 CH 检测，共发现 8918 例（1:2050）。值得注意的是，2000 年至 2007 年间，每年筛查的新生儿数量增加了 5 倍。在上海，采用串联质谱法对 116000 名新生儿进行了筛查，共发现了 6 种不同的疾病。5800 名健康新生儿中发现了 1 例遗传性代谢缺陷，其中最常见的是高苯丙氨酸血症。近年来，中国新生儿筛查发展迅速，并已开始使用串联质谱法进行试点研究。最大的挑战仍然是将覆盖范围扩大到全国，特别是中西部地区。
