Hwu Wuh-Liang, Huang Ai-Chu, Chen Jui-San, Hsiao Kwang-Jen, Tsai Wen-Yu
Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, ROC.
Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:91-3.
Neonatal screening in Taiwan started as a pilot program in 1981. The coverage rate increased to 90% in 1990, and is currently more than 99%. Five diseases are covered in the screening program including congenital hypothyroidism, phenylketonuria, homocystinuria, galactosemia, and glucose-6-phosphate dehydrogenase deficiency. A monitoring system was established at the same time to ensure correct diagnosis and treatment for positive cases. Neonatal screening is not compulsory by law in Taiwan, but the government is very concerned about it. New tests for neonatal screening have recently been included as pilot programs. Parents of the newborns have to pay for these tests, for which informed consent has to be given. These additional tests include screening for congenital adrenal hyperplasia and tandem mass screening. The results of these pilot programs will be offered to the government for policy decision-making in the future.
台湾的新生儿筛查始于1981年的一个试点项目。1990年覆盖率提高到90%，目前超过99%。筛查项目涵盖五种疾病，包括先天性甲状腺功能减退症、苯丙酮尿症、同型胱氨酸尿症、半乳糖血症和葡萄糖-6-磷酸脱氢酶缺乏症。同时建立了一个监测系统，以确保对阳性病例进行正确的诊断和治疗。在台湾，新生儿筛查并非法律强制要求，但政府对此非常关注。新生儿筛查的新检测最近已被纳入试点项目。新生儿的父母必须为这些检测付费，并且必须签署知情同意书。这些额外的检测包括先天性肾上腺皮质增生症筛查和串联质谱筛查。这些试点项目的结果将提供给政府，以供未来决策参考。
