{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:20:15Z","timestamp":1760188815333},"reference-count":98,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,12,20]],"date-time":"2006-12-20T00:00:00Z","timestamp":1166572800000},"content-version":"vor","delay-in-days":353,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ment. Retard. Dev. Disabil. Res. Rev."],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false\u2010positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results. \u00a9 2006 Wiley\u2010Liss, Inc. MRDD Research Reviews 2006;12:262\u2013269.<\/jats:p>","DOI":"10.1002\/mrdd.20123","type":"journal-article","created":{"date-parts":[[2006,12,20]],"date-time":"2006-12-20T23:51:38Z","timestamp":1166658698000},"page":"262-269","source":"Crossref","is-referenced-by-count":15,"title":["Universal newborn screening and adverse medical outcomes: A historical note"],"prefix":"10.1002","volume":"12","author":[{"given":"Jeffrey P.","family":"Brosco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael I.","family":"Seider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela C.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,20]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Guide to Clinical Preventive Services","author":"1996 U.S. Preventive Services Task Force","year":"1996"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2779(1998)4:1<50::AID-MRDD8>3.0.CO;2-0"},{"issue":"4","key":"e_1_2_1_4_1","first-page":"S1","article-title":"The treatment of sickle cell disease. A historical and chronological literature review of the therapies applied since 1910","volume":"36","author":"Aluoch JR","year":"1984","journal-title":"Trop Geogr Med"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI102438"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(67)80181-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80350-5"},{"key":"e_1_2_1_8_1","first-page":"137","article-title":"A simple spot screening test for galactosemia","volume":"68","author":"Beutler E","year":"1966","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(53)90473-5"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1983.tb09850.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2547"},{"key":"e_1_2_1_12_1","volume-title":"No Magic Bullet","author":"Brandt AM","year":"1985"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.103.2.478"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.160.3.302"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0021-9258(18)74402-5","article-title":"Isolation of pregnane\u20103,17,20\u2010triol from urine of women showing adrenogenital syndrome","volume":"119","author":"Butler G","year":"1937","journal-title":"J Biol Chem"},{"key":"e_1_2_1_16_1","first-page":"1","article-title":"\u201cNormal\u201d children, \u201cabnormal\u201d results","volume":"140","author":"Chase GA","year":"1977","journal-title":"Johns Hopkins Med J"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00716-1"},{"key":"e_1_2_1_18_1","first-page":"725","article-title":"The McKeown thesis: a historical controversy and its enduring influence","volume":"92","author":"Colgrove J","year":"2002","journal-title":"Am J Clin Nutr"},{"key":"e_1_2_1_19_1","first-page":"489","article-title":"The discovery of cretinism","volume":"36","author":"Cranefield P","year":"1962","journal-title":"Bull Hist Med"},{"key":"e_1_2_1_20_1","first-page":"107","article-title":"Sudden cortical blindness following transient enhancement of steroids administered in congenital adrenal hyperplasia (case report)","volume":"30","author":"Decsi T","year":"1990","journal-title":"Acta Paediatr Hung"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195905282602202"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003081-199703000-00012"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.12.4332"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80349-0"},{"key":"e_1_2_1_25_1","volume-title":"Bittersweet: Diabetes, Insulin, and the Transformation of Illness","author":"Feudtner JC","year":"2003"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80133-X"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992287000900914"},{"key":"e_1_2_1_28_1","first-page":"13","volume-title":"Oski's Pediatrics: principles and Practice","author":"Fost N","year":"1999"},{"key":"e_1_2_1_29_1","unstructured":"FostN.2005.Session 1: Bioethics and American Children. The President's Council on Bioethics Meeting on December 8\u20139 2005. Washington DC."},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1987.tb10424.x"},{"key":"e_1_2_1_31_1","first-page":"473","article-title":"Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden","volume":"54","author":"Goppert F","year":"1917","journal-title":"Klin Wschr"},{"key":"e_1_2_1_32_1","first-page":"92","article-title":"Screening for inborn errors of metabolism in the newborn infant\u2014a multiple test program","volume":"4","author":"Guthrie R","year":"1968","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"5","key":"e_1_2_1_33_1","first-page":"836","article-title":"Newborn screening for sickle cell disease and other hemoglobinopathies","volume":"83","author":"Guthrie R","year":"1989","journal-title":"Newborn screening. Pediatrics"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-6164(92)90025-Z"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014247"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.32.3.338"},{"key":"e_1_2_1_37_1","volume-title":"Phenylketonuria. Detection in the newborn infant as a routine hospital procedure","author":"Guthrie R","year":"1964"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197007000-00002"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.11.010"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1963.tb03800.x"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-3196"},{"key":"e_1_2_1_42_1","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1192\/bjp.85.357.719","article-title":"The genetics of phenylpyruvic oligophrenia (a contribution to the study of the influence of heredity on mental defect)","volume":"85","author":"Jervis GA","year":"1939","journal-title":"J Ment Sci"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81037-6"},{"key":"e_1_2_1_44_1","volume-title":"The Family in History: Lectures Given in Memory of Stephen Allen Kaplan Under the Auspices of the Department of History at the University of Pennsylvania","author":"Kaplan SA","year":"1975"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/0045-9380(85)90035-0"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.154.7.714"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-8261-8_1"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-595X(74)80031-9"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80351-5"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197710132971510"},{"key":"e_1_2_1_51_1","first-page":"722","article-title":"McKeown and the idea that social conditions are fundamental causes of disease","volume":"92","author":"Link BG","year":"2002","journal-title":"Am J Clin Nutr"},{"key":"e_1_2_1_52_1","volume-title":"Hippocratic Writings","author":"Lloyd G","year":"1978"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5114.90"},{"key":"e_1_2_1_54_1","first-page":"92","volume-title":"PKU and BH4: Advances in Phenylketouria and Tetrahydrobiopterin","author":"Marsden D","year":"2006"},{"key":"e_1_2_1_55_1","volume-title":"The modern rise of population","author":"McKeown T","year":"1976"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.2307\/3349539"},{"key":"e_1_2_1_57_1","volume-title":"Save the babies: american public health reform and the prevention of infant mortality","author":"Meckel R","year":"1990"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80315-4"},{"key":"e_1_2_1_59_1","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1542\/peds.23.2.348","article-title":"Maple syrup disease: Isolation and identification of organic acids in the urine","volume":"23","author":"Menkes JH","year":"1959","journal-title":"Pediatrics"},{"key":"e_1_2_1_60_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.14.5.462"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5228.763"},{"key":"e_1_2_1_62_1","volume-title":"National Newborn Screening Report\u20132000","author":"National Newborn Screening and Genetics Resource Center","year":"2003"},{"key":"e_1_2_1_63_1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1542\/peds.61.2.262","article-title":"Newborn screening for maple syrup urine disease (branched\u2010chain ketoaciduria)","volume":"61","author":"Naylor EW","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_64_1","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1542\/peds.88.2.346","article-title":"Verbal dyspraxia in treated galactosemia","volume":"88","author":"Nelson CD","year":"1991","journal-title":"Pediatrics"},{"key":"e_1_2_1_65_1","unstructured":"Online Mendelian Inheritance in Man (Galactosemia).2006. Johns Hopkins University."},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-199708000-00018"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/35014676"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.110.2865.543"},{"issue":"5","key":"e_1_2_1_69_1","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1542\/peds.83.5.815","article-title":"Neonatal testing for sickle cell diseases\u2014a historical and personal review","volume":"83","author":"Pearson HA","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_1_70_1","volume-title":"Mental Retardation: A National Plan for a National Problem","author":"President's Panel on Mental Retardation","year":"1963"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.46.249.692"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-7138(09)62188-9"},{"key":"e_1_2_1_73_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195111187.001.0001","volume-title":"Beginnings count: the technological imperative in american health care","author":"Rothman DJ","year":"1997"},{"key":"e_1_2_1_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80327-X"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.37.194.430"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)91678-6"},{"key":"e_1_2_1_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02143801"},{"key":"e_1_2_1_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-9120(94)00076-8"},{"key":"e_1_2_1_79_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197104082841404"},{"key":"e_1_2_1_80_1","volume-title":"The Kennedy family and the story of mental retardation","author":"Shorter E","year":"2000"},{"key":"e_1_2_1_81_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)31271-5"},{"key":"e_1_2_1_82_1","volume-title":"The social transformation of american medicine: the rise of a sovereign profession and the making of a vast industry","author":"Starr P","year":"1983"},{"key":"e_1_2_1_83_1","first-page":"722","article-title":"Rethinking McKeown: the relationship between public health and social change","volume":"92","author":"Szreter S","year":"2002","journal-title":"Am J Clin Nutr"},{"key":"e_1_2_1_84_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2026"},{"key":"e_1_2_1_85_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.pubmed.a024777"},{"key":"e_1_2_1_86_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.1996.tb00386.x"},{"key":"e_1_2_1_87_1","volume-title":"Inventing the feeble mind: a history of mental retardation in the United States","author":"Trent JW","year":"1994"},{"key":"e_1_2_1_88_1","doi-asserted-by":"publisher","DOI":"10.1093\/fampra\/3.2.92"},{"key":"e_1_2_1_89_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345329"},{"key":"e_1_2_1_90_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800204"},{"key":"e_1_2_1_91_1","volume-title":"Drawing blood: technology and disease identity in twentieth\u2010century America","author":"Wailoo K","year":"1997"},{"key":"e_1_2_1_92_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80292-3"},{"key":"e_1_2_1_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)31847-8"},{"key":"e_1_2_1_94_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.201.485"},{"key":"e_1_2_1_95_1","first-page":"571","article-title":"Maple syrup urine disease","volume":"94","author":"Westall RG","year":"1957","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_96_1","first-page":"1","article-title":"Screening for inborn errors of metabolism","volume":"401","author":"WHO","year":"1968","journal-title":"World Health Organ Tech Rep Ser"},{"key":"e_1_2_1_97_1","first-page":"249","article-title":"The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia","volume":"86","author":"Wilkins L","year":"1950","journal-title":"Bull Johns Hopkins Hosp"},{"key":"e_1_2_1_98_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.37.196.565"},{"key":"e_1_2_1_99_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.4905.57"}],"container-title":["Mental Retardation and Developmental Disabilities Research Reviews"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmrdd.20123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mrdd.20123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T14:15:48Z","timestamp":1707488148000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mrdd.20123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":98,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["10.1002\/mrdd.20123"],"URL":"https:\/\/doi.org\/10.1002\/mrdd.20123","archive":["Portico"],"relation":{},"ISSN":["1080-4013","1098-2779"],"issn-type":[{"value":"1080-4013","type":"print"},{"value":"1098-2779","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}