Brief History of Newborn Screening

NICHD has been at the forefront of newborn screening efforts since the 1960s. One of the Institute's earliest research successes was validation of the mass screening test developed by Dr. Robert Guthrie for the metabolic disorder phenylketonuria (PKU).1

Citations

  1. Alexander, D. (2003). The National Institute of Child Health and Human Development and phenylketonuria. Pediatrics, 112, 1514-1515.
  2. Baby's First Test. (2012). Screening resources. Retrieved February 20, 2017, from http://www.babysfirsttest.org/screening-resources
  3. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. (2011). 2011 annual report to Congress. Retrieved February 20, 2012, from https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/reports/2011-annual-report.pdf (PDF - 871 KB)
  4. Centers for Disease Control and Prevention. (2011). Ten great public health achievements—United States, 2001-2010. Morbidity and Mortality Weekly Report, 60, 619–623. Retrieved February 20, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm
  5. American College of Medical Genetics. (n.d.). Newborn screening: Toward a uniform screening panel and system. Retrieved August 29, 2012, from http://www.ncbi.nlm.nih.gov/pubmed/16735256
  6. Health Resources and Services Administration.(n.d.) Secretary's Advisory Committee on Heritable Disorders in Newborns. Retrieved February 20, 2017, from https://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
  7. Sebelius, K. (2011). Letter to R. Rodney Howell, M.D. Retrieved February 20, 2017, from https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/response-congenital-cyanotic.pdf (PDF - 211 KB)
  8. Advisory Committee on Heritable Disorders in Newborns and Children. (2016). Recommended Uniform Screening Panel. Retrieved July 11, 2017, from https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html

What is the purpose of newborn screening?

What disorders are newborns screened for in the United States?

How many newborns are screened in the United States?

How is newborn screening done?

How are my newborn's screening results used?

Brief History of Newborn Screening

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