Newborn screening fact sheets

Celia I. Kaye, G. Bradley Schaefer, Marilyn J. Bull, Gregory M. Enns, Jeffrey R. Gruen, Joseph H. Hersh, Nancy J. Mendelsohn, Howard M. Saal

Research output: Contribution to journalReview articlepeer-review

159 Scopus citations


Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to newborn screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: full/118/3/1304). These topics are newborn screening as a public health system; factors contributing to the need for review of the newborn screening system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening; status of newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.

Original languageEnglish (US)
Pages (from-to)e934-e963
Issue number3
StatePublished - Sep 2006
Externally publishedYes


  • Biotinidase deficiency
  • Congenital adrenal hyperplasia
  • Congenital hearing loss
  • Congenital hypothyroidism
  • Cystic fibrosis
  • Galactosemia
  • Genetic disorder
  • Hemoglobinopathies
  • Homocystinuria
  • Maple syrup urine disease
  • Newborn screening
  • Screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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