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Newborn screening

Alex R Kemper, MD, MPH, MS
Section Editor
Steven A Abrams, MD
Deputy Editor
Melanie S Kim, MD


The goal of newborn screening is to detect disorders that are threatening to life or long-term health before they become symptomatic. These conditions include inborn errors of metabolism, endocrine disorders, hemoglobinopathies, immunodeficiency, cystic fibrosis, and critical congenital heart defects. Early treatment of these rare disorders may significantly reduce mortality and morbidity in affected patients.

The principles of newborn screening, screening policies, testing, and follow-up are reviewed here. Specific disorders and screening for hearing loss and critical congenital heart defects are discussed separately. (See "Inborn errors of metabolism: Identifying the specific disorder", section on 'Newborn screening' and "Screening the newborn for hearing loss" and "Newborn screening for critical congenital heart disease using pulse oximetry".)


Neonatal metabolic screening began in the early 1960s with the work of Robert Guthrie, who developed a screening test for phenylketonuria (PKU) and a system for the collection and transportation of small blood samples on filter paper (known as the Guthrie card) [1]. The screening technique he developed (the Guthrie test) was a bacterial inhibition assay. It was based upon the principle that the inhibition of bacterial growth on an agar plate produced by a biochemical compound (on a disc) is prevented by an amino acid or metabolite with a structure similar to the inhibitory substance. When a blood specimen contains greater than normal quantities of an amino acid or metabolite, a large growth of bacteria occurs around the disc. This technique has been used to detect other inborn errors of metabolism, including maple syrup urine disease, homocystinuria, tyrosinemia, and histidinemia.

Technology — Technical advances facilitated the expansion of newborn screening to include detection of additional disorders.

A radioimmunoassay for thyroxine (T4) made possible screening for congenital hypothyroidism [2].

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Literature review current through: Nov 2017. | This topic last updated: Dec 16, 2015.
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