Biochemical Genetics and Newborn Screening, The Children's Hospital at Westmead, Hawkesbury Road, Westmead, NSW, Australia.
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S205-10. doi: 10.1007/s10545-010-9106-6. Epub 2010 May 4.
Achieving the goals of newborn screening is, as for any screening, a balancing act: getting the maximum benefit from screening while producing the minimum harm. The advent of "expanded" newborn screening, with a large number of disorders detectable using a single test, has also posed problems, not new, but now more obvious. One is the finding of many more cases by screening, the extra cases being largely patients who have attenuated phenotypes and may remain asymptomatic for many years, even throughout life. These may or may not require active management in the short term, but do need lifelong awareness. Additionally, disorders have been included that are now thought benign or largely so. Babies risk being unnecessarily medicalized. Assessing outcome has also proved difficult because of the rarity of some disorders and the impracticality of randomized controlled trials. The requirements for valid studies include the need for case definitions, comparable comparison groups and probably assessment on a whole-population basis. An Australia-wide study of tandem mass spectrometry newborn screening involving 2 million screened and unscreened babies has demonstrated benefits overall to screened patients at age 6 years. The study was too small to provide conclusions for individual disorders other than for medium-chain acyl-CoA dehydrogenase deficiency.
实现新生儿筛查的目标，就像任何筛查一样，是一种平衡行为：在产生最小伤害的同时，从筛查中获得最大的益处。“扩展”新生儿筛查的出现，通过单次测试可以检测到大量疾病，也带来了一些问题，这些问题虽然不是新的，但现在更加明显。其中之一是通过筛查发现了更多的病例，这些额外的病例主要是表型减弱的患者，他们可能多年甚至终生都没有症状。这些病例在短期内可能不需要积极管理，但需要终身关注。此外，还包括了现在被认为是良性或基本良性的疾病。婴儿可能会被不必要地进行医学治疗。由于一些疾病的罕见性和随机对照试验的不切实际性，评估结果也被证明是困难的。有效研究的要求包括需要病例定义、可比的对照组，可能还需要在全人群基础上进行评估。一项涉及 200 万 screened 和 unscreened 婴儿的澳大利亚串联质谱新生儿筛查的全国性研究表明，在 6 岁时，筛查患者总体上受益。该研究规模太小，除了中链酰基辅酶 A 脱氢酶缺乏症外，无法对个别疾病做出结论。
