This policy is a revision of the policy posted on September 1, 1996.

TECHNICAL REPORT

PEDIATRICS Vol. 118 No. 3 September 2006, pp. 1304-1312 (doi:10.1542/peds.2006-1782)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (7)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Kaye, C. I.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kaye, C. I.
Related Collections
Right arrowRelated Article

TECHNICAL REPORT

Introduction to the Newborn Screening Fact Sheets

Celia I. Kaye, MD, PhD and Committee on Genetics

ABSTRACT

Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the newborn screening public health system. The newborn screening system consists of 5 parts: (1) newborn testing; (2) follow-up of abnormal screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the newborn screening system. The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): 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.

Key Words: newborn screening • screening • genetic disorder • biotinidase deficiency • congenital adrenal hyperplasia • congenital hearing loss • congenital hypothyroidism • cystic fibrosis • galactosemia • hemoglobinopathies • homocystinuria • maple syrup urine disease • medium-chain acyl-coenzyme A dehydrogenase deficiency • phenylketonuria • sickle cell disease • tyrosinemia • tandem mass spectrometry

Abbreviations: AAP—American Academy of Pediatrics • MS/MS—tandem mass spectrometry • PKU—phenylketonuria • MCAD—medium-chain acyl-coenzyme A dehydrogenase • FAO—fatty acid oxidation


Related Article

Newborn Screening Fact Sheets
Celia I. Kaye and the Committee on Genetics
Pediatrics 2006 118: e934-e963. [Abstract] [Full Text] [PDF]

The following policy statement has been revised:

Newborn Screening Fact Sheet
Pediatrics 1996 98: 473-501. [Abstract] [PDF]



This article has been cited by other articles:


Home page
 Arch Pediatr Adolesc MedHome page
L. A. Prosser, J. A. Ladapo, D. Rusinak, and S. E. Waisbren
Parental Tolerance of False-positive Newborn Screening Results
Arch Pediatr Adolesc Med, September 1, 2008; 162(9): 870 - 876.
[Abstract] [Full Text] [PDF]

Home page
 Clin EthicsHome page
A. Slowther
Predictive testing and population screening
Clin Ethics, March 1, 2008; 3(1): 11 - 13.
[Full Text] [PDF]

Home page
 Am. J. Respir. Crit. Care Med.Home page
F. J. Accurso
Update in Cystic Fibrosis 2006
Am. J. Respir. Crit. Care Med., April 15, 2007; 175(8): 754 - 757.
[Full Text] [PDF]