PEDIATRICS Vol. 118 No. 3 September 2006, pp. e934-e963 (doi:10.1542/peds.2006-1783)

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TECHNICAL REPORT

Newborn Screening Fact Sheets

ABSTRACT

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: www.pediatrics.org/cgi/content/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.

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-CoA dehydrogenase deficiency • phenylketonuria • sickle cell disease • tyrosinemia • tandem mass spectrometry

Abbreviations: OMIM, Online Mendelian Inheritance in Man • MS/MS, tandem mass spectrometry • CoA, coenzyme A • BTD, biotinidase gene • CAH, congenital adrenal hyperplasia • 21-OH, 21-hydroxylase • SW, salt wasting • SV, simple virilizing • AG, ambiguous genitalia • ACTH, adrenocorticotropic hormone • 17-OHP, 17-OH-progesterone • AABR, automated auditory brainstem response • OAE, otoacoustic emission • CH, congenital hypothyroidism • T₄, thyroxine • HPT, hypothalamic-pituitary-thyroid • CF, cystic fibrosis • CFTR, cystic fibrosis transmembrane conductance regulator • IRT, immunoreactive trypsinogen • GALT, galactose 1-phosphate uridyltransferase • GALK, galactokinase • GALE, galactose-4'-epimerase • CBS, cystathionine ß-synthase • BIA, bacterial inhibition assay • MSUD, maple syrup urine disease • BCKD, branched-chain -keto acid dehydrogenase • BCAA, branched-chain amino acid • BCKA, branched-chain -keto acid • E3, dihydrolipoyl dehydrogenase • E1, thiamine pyrophosphate–dependent decarboxylase • E2, transacylase • MCAD, medium-chain acyl-coenzyme A dehydrogenase • FAO, fatty acid oxidation • SIDS, sudden infant death syndrome • ADHD, attention-deficit/hyperactivity disorder • PKU, phenylketonuria • PAH, phenylalanine hydroxylase • BH4, tetrahydrobiopterin • SCD, sickle cell disease • HPLC, high-performance liquid chromatography • Hb, hemoglobin • HbF, fetal hemoglobin • HbA, normal adult hemoglobin • FA, fetal and adult hemoglobin • MCV, mean corpuscular volume • FAH, fumarylacetoacetate hydrolase • TAT, tyrosine aminotransferase • NTBC, 2-(2-nitro-4-trifluoromethylbenzyl)-1,3-cyclohexanedione

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