Brosco Jeffrey P, Seider Michael I, Dunn Angela C
Department of Pediatrics, University of Miami, Miller School of Medicine, Miami, Florida 33101, USA.
Ment Retard Dev Disabil Res Rev. 2006;12(4):262-9. doi: 10.1002/mrdd.20123.
Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results.
在美国，过去50年里，针对代谢紊乱的新生儿普遍筛查项目通常被视为医学和公共政策的一项成就。包括人类基因组计划在内的科学技术进步，为扩大新生儿普遍筛查项目提供了机会，使其能够涵盖更多其他代谢和遗传疾病。尽管此类筛查项目的益处似乎超过了成本，但一些批评人士声称，历史上曾出现过因筛查结果假阳性及后续不适当的医学治疗而导致意外伤害的例子，这应该让我们对扩大新生儿普遍筛查保持警惕。在本文中，我们报告了一项对已发表文献的综述结果，以评估从高危人群扩大到所有新生儿的筛查是否会因错误的医学治疗而导致大量发病和死亡。我们提供了美国新生儿普遍筛查项目的历史概述，然后重点关注六个早期的新生儿筛查项目：先天性甲状腺功能减退症、苯丙酮尿症、先天性肾上腺皮质增生症、半乳糖血症、镰状细胞病和枫糖尿症。我们对已发表资料的全面检索并未发现因对筛查试验结果呈假阳性的儿童进行医学治疗而导致广泛伤害问题。
