Thomason M J, Lord J, Bain M D, Chalmers R A, Littlejohns P, Addison G M, Wilcox A H, Seymour C A
Department of Child Health, St George's Hospital Medical School, London.
J Public Health Med. 1998 Sep;20(3):331-43. doi: 10.1093/oxfordjournals.pubmed.a024777.
Developments in screening technology and increased understanding of the natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure to extend neonatal screening programmes. This review aims to assess the evidence for the appropriateness of such programmes.
A formal systematic literature review was conducted. Exclusion and inclusion criteria were used to select papers for critical appraisal by pairs of reviewers. Standard criteria were used to assess the appropriateness of neonatal screening for various IEMs. Site visits were conducted to assess new technologies for newborn screening.
A total of 1866 papers were identified and 407 systematically selected for full critical appraisal. Published evidence confirmed that universal newborn screening for phenylketonuria (PKU) meets all of the screening criteria and justifies the expense and infrastructure necessary for the collection and testing of neonatal blood spots. There was insufficient evidence in the literature to assess the cost-effectiveness of screening for any other IEMs. There was reasonable evidence to support inclusion in extended neonatal screening of four other IEMs: biotinidase deficiency, congenital adrenal hyperplasia (CAH), medium-chain acyl CoA dehydrogenase (MCAD) deficiency and glutaric aciduria type 1 (GA1).
Large-scale trials of screening for biotinidase, CAH, MCAD and GA1 should be conducted, with careful evaluation to establish their clinical effectiveness and cost-effectiveness in practice. Screening for the latter two disorders would be dependent upon the use of tandem mass spectrometry (tandem MS). The application of tandem MS to newborn screening requires further evaluation. The extension of neonatal screening programmes to other IEMs is not currently justified.
筛查技术的发展以及对先天性代谢缺陷病（IEMs）自然病史和治疗的深入了解，给扩大新生儿筛查项目带来了压力。本综述旨在评估此类项目适宜性的证据。
进行了正式的系统文献综述。采用排除和纳入标准来选择论文，由评审员对其进行严格评估。使用标准标准评估各种IEMs新生儿筛查的适宜性。进行实地考察以评估新生儿筛查的新技术。
共识别出1866篇论文，系统选择了407篇进行全面严格评估。已发表的证据证实，苯丙酮尿症（PKU）的普遍新生儿筛查符合所有筛查标准，证明了采集和检测新生儿血斑所需的费用和基础设施是合理的。文献中没有足够的证据来评估筛查任何其他IEMs的成本效益。有合理的证据支持将其他四种IEMs纳入扩大的新生儿筛查：生物素酶缺乏症、先天性肾上腺皮质增生症（CAH）、中链酰基辅酶A脱氢酶（MCAD）缺乏症和1型戊二酸尿症（GA1）。
应开展生物素酶、CAH、MCAD和GA1筛查的大规模试验，并进行仔细评估，以确定其在实际应用中的临床有效性和成本效益。对后两种疾病的筛查将依赖于串联质谱（串联MS）的使用。串联MS在新生儿筛查中的应用需要进一步评估。目前将新生儿筛查项目扩展到其他IEMs尚无正当理由。
