Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

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Abstract
Routine newborn screening is required practice for newborn care throughout the United States. It began as screening for a single biochemical genetic disorder, phenylketonuria, in the 1960s.1 Over the years, congenital hypothyroidism and a few additional metabolic disorders were included.2,3 Traditionally, testing for each disorder required a separate test and a separate disk punched from the newborn dried blood filter paper specimen. The application of tandem mass spectrometry to newborn screening now provides the possibility of screening for many treatable disorders with a single evaluation, requiring only a single disk of the newborn blood specimen.4 Biochemical genetic screening of newborns now can be efficiently extended to at least 20 disorders of amino acids, organic acids, and fatty acids.5 To date, 24 states have commenced expanded newborn screening using tandem mass spectrometry, 4 have not yet implemented mandated programs, and 4 offer nonmandated expanded screening.6