对具有高效益风险比的疾病进行新生儿筛查应是强制性的。
Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.
作者信息
Kelly Nicole, Makarem Dalia Chehayeb, Wasserstein Melissa P
机构信息
Nicole Kelly, M.P.H., is the Research Program Manager for the Pilot Newborn Screening for Lysosomal Storage Disorders at the Albert Einstein College of Medicine. She is the Research Manager for the Division of Pediatric Genetic Medicine at the Children's Hospital at Montefiore. Dalia Chehayeb Makarem, M.P.H., is the Clinical Research Coordinator for the Pilot Newborn Screening for Lysosomal Storage Disorders at the Icahn School of Medicine at Mount Sinai. Melissa P. Wasserstein, M.D., is an Associate Professor of Pediatrics at the Albert Einstein College of Medicine and the Chief of Pediatric Genetic Medicine at The Children's Hospital at Montefiore in the Bronx, NY. She is a clinical biochemical geneticist, specializing in the care of individuals with rare inborn errors of metabolism.
出版信息
J Law Med Ethics. 2016 Jun;44(2):231-40. doi: 10.1177/1073110516654133.
Newborn screening has evolved to include an increasingly complex spectrum of diseases, raising concerns that screening should be optional and require parental consent. Early detection of disorders like PKU and MCAD is essential to prevent serious disability and death in affected children. These are examples of high benefit-risk ratio disorders because of the irrefutable health benefits of early detection, coupled with the low risks of treatment. The dire consequences of not diagnosing an infant with a treatable disorder because of parental refusal to screen are wholly unacceptable. Thus, we believe that newborn screening for disorders with high benefit-risk ratios should continue to be mandatory.
新生儿筛查已发展到涵盖越来越复杂的一系列疾病，这引发了人们对于筛查应是可选择的且需获得家长同意的担忧。像苯丙酮尿症（PKU）和中链酰基辅酶A脱氢酶缺乏症（MCAD）等疾病的早期检测对于预防患病儿童出现严重残疾和死亡至关重要。由于早期检测带来的无可争议的健康益处，再加上治疗风险较低，这些都是高收益风险比疾病的例子。因家长拒绝筛查而未诊断出患有可治疗疾病的婴儿所产生的可怕后果是完全不可接受的。因此，我们认为对高收益风险比疾病进行新生儿筛查应继续是强制性的。
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