Newborn Urine Screening
Routine urine screening of newborns for metabolic disorders is one of the most important of our many legacies from the late Dr. Mary Efron. It was she who first recognized the value of such screening in the early detection and in the understanding of those inborn metabolic and transport errors that are not identifiable by screening blood. It was she who first recognized that newborn screening could be easily performed using a filter paper specimen of urine that is as simple to collect and send to a central laboratory as the Guthrie blood specimen. And it was she who in 1966 initiated urine screening in Massachusetts.
KeywordsNewborn Screening Urine Specimen Fanconi Syndrome Methylmalonic Acid Maple Syrup Urine Disease
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- Coulombe JT (1978) Neuroblastoma — is early screening possible? Paper for Master’s degree in public health. Boston University School of Medicine, BostonGoogle Scholar
- Ersser RS, Smith I (1976) Aminoacids and related compounds. In: Smith I (ed) Chromatographic electrophoretic techniques vol I. Paper and thin layer chromatography, 4th edn. Year Book Medical Publishers, Chicago pp 75–121Google Scholar
- Gurthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338–342Google Scholar
- LaBrosse EH (1968) Biochemical diagnosis of neuroblastoma: Use of a urine spot test. Proc Am Assoc Cancer Res 9:39Google Scholar
- Levy HL (1973) Newborn screening for metabolic disorders. N Engl J Med 288:1299–1300Google Scholar
- Levy HL, Bennett AJE, McDevitt EDK (1979) Cost effectiveness of laboratory testing in genetic diseases. In: Young DS, Uddin D, Nippen H, Hicks J (eds) Am Assoc Chin Chem, Washington, pp 131–141Google Scholar
- Turner B, Brown DA (1970) Aminoacid excretion in infancy and early childhood. Med J Aus 1:11–14Google Scholar