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首页> 外文期刊>Pathology >Screening for disease in the newborn: the evidence base for blood-spot screening.
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Screening for disease in the newborn: the evidence base for blood-spot screening.

机译：新生儿疾病筛查：血点筛查的证据基础。

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This paper reviews the evidence of benefit resulting from newborn screening in Australia as well as for some of those disorders not yet included in the Australian panels, and discusses briefly disorders under active consideration for inclusion in the screening panels.There is solid evidence of benefit from newborn screening for phenylketonuria, congenital hypothyroidism, cystic fibrosis, and overall for the disorders included in tandem mass spectrometry screening. There is also some evidence of benefit for several disorders not screened for in Australia, including congenital adrenal hyperplasia. Harms resulting from screening include anxiety related to false positive results; adverse effects of unwarranted treatment for mild variants; unwanted genetic information; and the costs (opportunity costs) of screening. For well-run programs these harms are relatively small.Screening could become more effective with the development of good systems for rational consideration of disorders to be included, with the extended use of second tier testing to reduce the false positive rate, and with research on the most effective way to deal with mild variants. The most important aspect of increasing effectiveness is the full integration of the screening program, diagnostic laboratories, and the clinical service. This is already in place in Australasia.
机译：本文回顾了澳大利亚新生儿筛查以及尚未包括在澳大利亚专家组中的某些疾病带来的益处的证据，并简要讨论了积极考虑纳入筛查专家组的疾病。新生儿筛查苯丙酮尿症，先天性甲状腺功能减退症，囊性纤维化，以及整体筛查串联质谱法中所包含的疾病。也有一些证据表明对澳大利亚尚未筛查的几种疾病（包括先天性肾上腺增生）有益。筛查产生的危害包括与假阳性结果相关的焦虑;轻度变异的不当治疗的不利影响;有害的遗传信息;以及筛查的费用（机会费用）。对于运行良好的程序，这些危害相对较小。筛查可以通过开发合理地考虑疾病的良好系统的开发，扩大使用第二级测试以减少假阳性率以及对处理轻度变体的最有效方法。提高有效性的最重要方面是筛查程序，诊断实验室和临床服务的完全集成。这在澳大利亚已经存在。

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