Green A
Birmingham Children's Hospital NHS Trust, Ladywood Middleway, UK.
Rinsho Byori. 1998 Mar;46(3):211-6.
Neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CHT) is universal across the UK using heel prick blood collected at 6-14 days of age. Additional programmes for sickle cell disorders, cystic fibrosis, Duchenne muscular dystrophy and galactosaemia are provided in some areas. The number of inherited metabolic disorders (IMDs) has greatly increased since the introduction of PKU screening, and there have been major advances in treatment, e.g. organ transplantation, drug therapy. Recent developments in technology have expanded the possibilities for screening using the heel prick blood specimen, particularly the application of tandem mass spectrometry. There is a case for introducing tandem mass spectrometry, limited to clearly defined diseases where specificity is adequate and there are satisfactory diagnostic tests. Any change in newborn screening to a much broader group of disorders must be carefully introduced and monitored preferably as a pilot study. A key component of a laboratory screening service is quality control. There are well established UK programmes for PKU and CHT. Consideration of the needs for other disorders is now an important priority.
在英国，对苯丙酮尿症（PKU）和先天性甲状腺功能减退症（CHT）进行新生儿筛查是普遍做法，采用出生后6至14天采集的足跟血。一些地区还开展了针对镰状细胞病、囊性纤维化、杜氏肌营养不良症和半乳糖血症的额外筛查项目。自开展苯丙酮尿症筛查以来，遗传性代谢疾病（IMDs）的数量大幅增加，并且在治疗方面取得了重大进展，例如器官移植、药物治疗。技术的最新发展扩大了利用足跟血标本进行筛查的可能性，特别是串联质谱法的应用。有理由引入串联质谱法，但仅限于明确界定的疾病，且特异性足够且有令人满意的诊断测试。新生儿筛查向更广泛的疾病群体的任何改变都必须谨慎引入并进行监测，最好作为一项试点研究。实验室筛查服务的一个关键组成部分是质量控制。英国有完善的苯丙酮尿症和先天性甲状腺功能减退症筛查项目。现在，考虑其他疾病的需求是一项重要的优先事项。
