A Primer on Newborn Screening

Kristin Gatrell Bryant, RN, BSN, MSN; Kimberly M. Horns, RNC, NNP, PhD; Nicola Longo, MD, PhD; Julieanne Schiefelbein, MappSc, RNC, MA (Ed), RM, PNP, NNP


Adv Neonatal Care. 2004;4(5) 

In This Article

History of Newborn Screening

Dr. Robert Guthrie developed the first simple, sensitive, and inexpensive screening test for hyperphenylalaninemia in 1962.[2,11,12] With this test, phenylalanine, in blood dried on filter paper, inhibits bacterial growth.[12] Prior to the Guthrie assay, a ferric chloride test was used to detect phenylalanine on wet diapers.[2] Infants identified as having hyperphenylalaninemia were treated with a low-phenylalanine diet. Dr. Guthrie discovered that with early identification and treatment, infants had normal cognitive development compared to untreated infants who developed severe mental retardation.[12]

In the mid 1960s, soon after his discovery, Massachusetts implemented the first universal newborn screening program, which at the time screened for only one disorder, hyperphenylalaninemia.[2,12,13] Soon newborn hyperphenylalaninemia screening became available nationwide. Since then, technological advancements have led to an improvement in the number of disorders screened.[12,13] For example, North Dakota and Iowa offer the most comprehensive newborn screening programs, which include 40 disorders.[14] The disorders included in newborn screening may consist of IBEM, hemoglobinopathies, endocrine disorders, infectious disease, and other inherited disorders, such as cystic fibrosis. Broad variation, however, exists from state to state.


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