Published online September 1, 2006
PEDIATRICS Vol. 118 No. 3 September 2006, pp. 1304-1312 (doi:10.1542/peds.2006-1782)
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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


The following policy statement has been revised:

Newborn Screening Fact Sheet
Pediatrics 98: 473-501.



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