Newborn Screening for Congenital Hypothyroidism

Abstract

IN THE UNITED STATES (U.S.), newborn screening began in the mid 1960s ( DeLuca et al., 2011 DeLuca J.M. Kearney M.H. Norton S.A. Arnold G.L. Parents’ experiences of expanded newborn screening evaluations. Pediatrics. 2011; 128: 53-61 Crossref PubMed Scopus (45) Google Scholar ). The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children recommended screening for 30 disorders ( U.S. Department of Health and Human Services, Health Resources and Services Administration, 2011 U.S. Department of Health and Human Services, Health Resources and Services Administration Advisory Committee on Heritable Disorders in Newborns and Children. Recommended Uniform Screening Panel of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/meetings/twentieth/carrierscreening.pdfDate: 2011 Google Scholar ) that can be categorized into endocrine, hemoglobin, genetic, galactosemias, fatty acid oxidation, organic and amino acidemias, immunodeficient disorders, and lysosomal storage diseases ( American College of Medical Genetics, 2010 American College of Medical Genetics Newborn screening ACT sheets and confirmatory algorithms. http://www.acmg.net/AM/Template.cfm?Section=NBS_ACT_Sheets_and_Algorithms_Table&Template=/CM/HTMLDisplay.cfm&ContentID=5072Date: 2010 Google Scholar ). Testing for these disorders is mandated by all 50 states, and has been shown to save lives by identifying disorders prior to the onset of potentially lethal or disabling symptoms ( Ball and Bindler, 2008 Ball J.W. Bindler R.C. Pediatric nursing caring for children. Pearson Prentice Hall, New Jersey2008 Google Scholar ).