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A Life in Newborn Screening

Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA
Department of Pediatrics Harvard Medical School, Boston, MA 02115, USA
Academic Editor: Peter C. J. I. Schielen
Int. J. Neonatal Screen. 2016, 2(4), 14;
Received: 22 September 2016 / Revised: 4 November 2016 / Accepted: 10 November 2016 / Published: 24 November 2016
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
PDF [838 KB, uploaded 24 November 2016]


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. View Full-Text
Keywords: newborn screening; expanded screening; my life; medical community; phenylketonuria; PKU; maternal newborn screening; expanded screening; my life; medical community; phenylketonuria; PKU; maternal

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Levy, H.L. A Life in Newborn Screening. Int. J. Neonatal Screen. 2016, 2, 14.

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