{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T05:53:16Z","timestamp":1788587596616,"version":"build-2803163510"},"reference-count":10,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,9,1]]},"abstract":"<jats:title>This Technical Report was retired June 2015.<\/jats:title>\n               <jats:p>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.<\/jats:p>","DOI":"10.1542\/peds.2006-1782","type":"journal-article","created":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T21:17:38Z","timestamp":1157145458000},"page":"1304-1312","source":"Crossref","is-referenced-by-count":67,"title":["Introduction to the Newborn Screening Fact Sheets"],"prefix":"10.1542","volume":"118","author":[{"given":"Celia I.","family":"Kaye","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Committee on Genetics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2006,9,1]]},"reference":[{"key":"2023092514005572900_R1","doi-asserted-by":"crossref","unstructured":"Pass KA, Lane PA, Fernhoff PM, et al. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr.\u20082000;137:S1\u2013S46","DOI":"10.1067\/mpd.2000.109437"},{"key":"2023092514005572900_R2","doi-asserted-by":"crossref","unstructured":"Larsson A, Therrell BL. Newborn screening: the role of the obstetrician. Clin Obstet Gynecol.\u20082002;45:697\u2013710; discussion 730\u2013732","DOI":"10.1097\/00003081-200209000-00013"},{"key":"2023092514005572900_R3","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Medical Home Initiatives for Children With Special Needs Project Advisory Committee. The medical home. Pediatrics.\u20082002;110:184\u2013186","DOI":"10.1542\/peds.110.1.184"},{"key":"2023092514005572900_R4","unstructured":"Serving the family from birth to the medical home. A report from the Newborn Screening Task Force convened in Washington DC, May 10\u201311, 1999. Pediatrics.\u20082000;106:2(2 pt 2):383\u2013427"},{"key":"2023092514005572900_R5","unstructured":"United States General Accounting Office. Newborn Screening: Characteristics of State Programs. Report to Congressional Requesters. Washington, DC: General Accounting Office; 2003. Publication No. GAO-03-449"},{"key":"2023092514005572900_R6","unstructured":"Institute of Medicine, Committee on Assessing Genetic Risks. Assessing Genetic Risks: Implications for Health and Social Policy. Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Washington, DC: National Academy of Sciences; 1994"},{"key":"2023092514005572900_R7","unstructured":"National Human Genome Research Institute. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Holtzman NA, Watson MS, eds. Bethesda, MD: National Institutes of Health; 1997"},{"key":"2023092514005572900_R8","unstructured":"Centers for Disease Control and Prevention. Using tandem mass spectrometry for metabolic disease screening among newborns: a report of a work group. MMWR Recomm Rep.\u20082001;50(RR-3):1\u201334"},{"key":"2023092514005572900_R9","doi-asserted-by":"crossref","unstructured":"Schoen EJ, Baker JC, Colby CJ, To TT. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics.\u20082002;110:781\u2013786","DOI":"10.1542\/peds.110.4.781"},{"key":"2023092514005572900_R10","doi-asserted-by":"crossref","unstructured":"Nelson RM, Botkjin JR, Kodish ED, et al. Ethical issues with genetic testing in pediatrics. Pediatrics.\u20082001;107:1451\u20131455","DOI":"10.1542\/peds.107.6.1451"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/3\/1304\/1531357\/zpe00906001304.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/118\/3\/1304\/1531357\/zpe00906001304.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T14:01:08Z","timestamp":1695650468000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/118\/3\/1304\/69408\/Introduction-to-the-Newborn-Screening-Fact-Sheets"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,1]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2006,9,1]]},"published-print":{"date-parts":[[2006,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2006-1782","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,1]]}}}