{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T16:38:10Z","timestamp":1782405490904,"version":"3.54.5"},"reference-count":33,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Clin Biochem"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:p>Screening newborn babies for inherited metabolic disease began in the UK in the late 1950s with the \u2018nappy test\u2019 for phenylketonuria. In 1969 the Department of Health recommended changing to bloodspot screening using the techniques developed in the USA by Robert Guthrie and his associates. Bloodspot screening for various other disorders (galactosaemia, maple syrup urine disease, homocystinuria, cystic fibrosis and others) was introduced on a patchy local basis but, until 2000, the only additional disorder officially recommended was congenital hypothyroidism. Screening for haemoglobinopathies received official support in 2000 and for cystic fibrosis in 2001 though implementation was slow, particularly for the latter. Both these screens have raised difficult issues relating to genetic privacy and the detection of carrier status in children. During the last decade screening has become increasingly subject to central control. Though a more consistent and systematic approach was clearly needed, this has undoubtedly slowed the rate of innovation. In particular the UK has lagged behind many other European countries in the application of tandem mass spectrometry (MS-MS) though, following a major pilot study, screening for medium-chain acyl-CoA dehydrogenase deficiency is now in the process of introduction. Attempts to codify clinical and laboratory procedures have also proved controversial, highlighting marked differences in practice in various parts of the country and the difficulty of rationalizing these within a practicable and scientifically justified framework. Notwithstanding this, there are many positive developments and newborn screening remains a stimulating and rewarding field in which to work.<\/jats:p>","DOI":"10.1258\/acb.2007.007127","type":"journal-article","created":{"date-parts":[[2008,2,9]],"date-time":"2008-02-09T15:22:53Z","timestamp":1202570573000},"page":"11-17","source":"Crossref","is-referenced-by-count":33,"title":["Newborn bloodspot screening in the UK \u2013 past, present and future"],"prefix":"10.1177","volume":"45","author":[{"given":"Melanie","family":"Downing","sequence":"first","affiliation":[{"name":"Clinical Chemistry and Newborn Screening, The Children's Hospital, Western Bank, Sheffield S10 2TH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney","family":"Pollitt","sequence":"additional","affiliation":[{"name":"Clinical Chemistry and Newborn Screening, The Children's Hospital, Western Bank, Sheffield S10 2TH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2008,1,1]]},"reference":[{"key":"bibr-ACB-07-127C1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1954.tb04000.x"},{"key":"bibr-ACB-07-127C2","first-page":"1691","author":"Conference on phenylketonuria: treatment of phenylketonuria","year":"1963","journal-title":"BMJ"},{"key":"bibr-ACB-07-127C3","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.303.6798.333"},{"key":"bibr-ACB-07-127C4","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.311.7007.726"},{"key":"bibr-ACB-07-127C5","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799824"},{"key":"bibr-ACB-07-127C6","volume-title":"Screening for Congenital Hypothyroidism","author":"Department of Health and Social Security","year":"1980"},{"key":"bibr-ACB-07-127C7","volume":"102","author":"Dussault JH","year":"1973","journal-title":"Union Med Can"},{"key":"bibr-ACB-07-127C8","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.280.6215.675"},{"key":"bibr-ACB-07-127C9","volume-title":"Newborn Blood Spot Screening in the UK. 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See http:\/\/www.clingensoc.org\/Docs\/Testing_of_Children1994.pdf (last accessed 31 January 2006)"},{"key":"bibr-ACB-07-127C21","volume-title":"Hansard","author":"Westminster Hall Debate"},{"key":"bibr-ACB-07-127C22","doi-asserted-by":"crossref","unstructured":"Cystic fibrosis newborn screening: evidence for benefit and current experience. Proceedings from a workshop, 20\u201321 November 2003, Atlanta, Georgia, USA. 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