Abstract
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.
Highlights
Newborn screening has revolutionized the diagnosis of genetic and even non-genetic diagnosis
The few that we did know—phenylketonuria (PKU) galactosemia, maple syrup urine disease (MSUD), congenital hypothyroidism, congenital adrenal hyperplasia—were always in infants or children already damaged with developmental delay or frank intellectual disability or severe liver disease, or even in a terminal condition ending in death
Male infants with congenital adrenal hyperplasia, unlike the females who are born with their characteristic ambiguous genitalia that allows clinical diagnosis, no longer die of a salt-wasting crisis because the disease was not recognized at birth; they are detected by newborn screening and immediately treated
Summary
Newborn screening has revolutionized the diagnosis of genetic and even non-genetic diagnosis. Male infants with congenital adrenal hyperplasia, unlike the females who are born with their characteristic ambiguous genitalia that allows clinical diagnosis, no longer die of a salt-wasting crisis because the disease was not recognized at birth; they are detected by newborn screening and immediately treated. There is another side of newborn screening, unintended consequences, which is only being given the attention it deserves. I hope that the story of my journey in newborn screening will shed light on where I came from and how I came to appreciate the benefits of screening and the need to understand the full picture
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