Joseph Roy
Department of Pediatrics, National University of Singapore, Singapore.
Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:89-90.
Births in Singapore are almost exclusively in hospitals and this is conducive to mass newborn screening. Mass newborn screeningbegan in 1965 for G6PD deficiency and has led to successful eradication of the complicating kernicterus. Screening has also identified the distinct ethnic and sex linked variations in incidence. The predominant molecular abnormality is the Canton variant. Congenital hypothyroidism screening was started as a pilot project in 1981, then became institution-based in 1985 and nationwide in 1990. The screening is carried out on the cord blood and is now a primary TSH screen. Anincidence of about 1 in 3000 is being obtained and treatment has been started within 2 weeks of birth in almost all babies. A pilot Newborn Screening for hearing impairment started in 1999. Ituses the measurement of Transient Evoked Oto-Acoustic Emissions, is hospital based andcovers about 10% of the newborn population. The program has identified hearing impairment requiring intervention at a rate of about 1:1000 births. A program covering about 50% of the national births has been commissioned by the Ministry of Health to establish epidemiologic data and to document the outcome of early intervention. Mass newborn screening for inborn errors of metabolism is being considered.
新加坡的新生儿几乎都在医院出生,这有利于开展大规模新生儿筛查。大规模新生儿筛查始于1965年,用于筛查葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症,已成功消除了与之相关的核黄疸并发症。筛查还发现了发病率在不同种族和性别之间的明显差异。主要的分子异常是广东变异型。先天性甲状腺功能减退症筛查于1981年作为试点项目启动,1985年变为基于机构开展,1990年在全国范围内推行。筛查在脐带血中进行,目前是初次促甲状腺激素筛查。筛查出的发病率约为三千分之一,几乎所有婴儿在出生后2周内就开始接受治疗。听力障碍新生儿筛查试点项目于1999年启动。该项目采用瞬态诱发耳声发射测量方法,以医院为基础,覆盖约10%的新生儿群体。该项目已识别出需要干预的听力障碍,发生率约为每1000例出生中有1例。卫生部已委托开展一项覆盖约50%全国新生儿的项目,以建立流行病学数据并记录早期干预的效果。目前正在考虑开展针对先天性代谢缺陷的大规模新生儿筛查。