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首页> 外文期刊>International Journal of Neonatal Screening >A Life in Newborn Screening
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A Life in Newborn Screening

机译：新生儿筛查的生活

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Newborn screening has revolutionized the diagnosis of many disorders, notably metabolic disorders. Whereas, formerly, a clinical presentation of developmental delay or other features led to the diagnosis, usually too late for optimal treatment, today it is an abnormal finding in newborn screening which leads to the diagnosis and presymptomatic preventative therapy. It is my good fortune to have been involved in newborn screening for virtually all of my 50 years in metabolic disorders?￠????the first 31 years with direct involvement. I have been part of the expansion of newborn screening from the time of the original Guthrie bacterial assays to the addition of tandem mass spectrometry. Newborn screening continues to be a central part of my professional life. This article describes my journey in newborn screening as a metabolic physician and the hallmarks of this journey within the rich history of newborn screening.
机译：新生儿筛查彻底改变了许多疾病的诊断方法，尤其是代谢疾病。以前，发育迟缓或其他特征的临床表现导致了诊断，通常为时过晚，无法进行最佳治疗，而如今，新生儿筛查是一个异常发现，从而导致了诊断和对症预防。我幸运的是，在我代谢紊乱的50年中，几乎所有50年都参与了新生儿筛查-直接参与的头31年。从最初的Guthrie细菌检测到串联质谱分析，我一直在扩大新生儿筛查的范围。新生儿筛查仍然是我职业生涯的核心部分。本文介绍了我作为新陈代谢医生的新生儿筛查历程，以及此历程在新生儿筛查史上的丰富经验。

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