{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:25:09Z","timestamp":1790814309759,"version":"4.1.0"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"10","license":[{"start":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T00:00:00Z","timestamp":1661299200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_cclm-2022-0403_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Since its implementation 50 years ago in Quebec, Canada, newborn screening for congenital hypothyroidism has become one of the most successful public health measures worldwide. Screening programmes across Australia and New Zealand are characterised by significant commonalities in screening algorithms, and a high degree of regional cooperation in harmonisation efforts. We aimed to conduct a comprehensive survey of current performance and practices related to the total testing process for congenital hypothyroidism screening and provide recommendations for harmonisation priorities within our region.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2022-0403_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A survey was conducted involving the six newborn screening laboratories which provide complete geographic coverage across Australasia. Approximately 360,000 newborns are screened annually. Survey questions incorporated pre-analytical, analytical, and post-analytical aspects of the screening programmes and an extensive 5-year (2016\u20132020) retrospective analysis of individual programme performance data. Responses from individual screening programmes were collated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2022-0403_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The uptake of newborn screening was over 98% for the six major jurisdictions. All programmes have adopted a single-tier thyroid stimulating hormone (TSH) strategy using the Perkin Elmer GSP instrument. Significant similarities exist between programmes for recommended age of collection and recollection protocols for low birthweight newborns. The process for the determination of TSH cutoffs varies between programmes. TSH lower cut-offs for borderline-positive and positive notifications between 12\u201315 and 12\u201325\u00a0mIU\/L blood, respectively. Recall rates vary between 0.08 and 0.20%. The case definition for\u00a0congenital hypothyroidism generally includes biochemical and radiological parameters in addition to the commencement of thyroxine. All programmes reported collecting biochemical and clinical data on infants with positive screening tests, and positive predictive values vary between 23.6 and 77.3%. Variation in reported incidence (1:1,300\u20132,000) cannot be entirely explained by cutoff or recall rate (although one programme reporting fewer cases includes only permanent disease).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_cclm-2022-0403_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Despite similarities between newborn screening algorithms for congenital hypothyroidism across Australia and New Zealand, differences in reported programme performance provide the basis for further harmonisation. Surveillance of a large population offers the potential for the ongoing development of evidence-based screening guidelines.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/cclm-2022-0403","type":"journal-article","created":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T23:09:25Z","timestamp":1661296165000},"page":"1551-1561","source":"Crossref","is-referenced-by-count":12,"title":["Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation"],"prefix":"10.1515","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7909-3670","authenticated-orcid":false,"given":"Tony","family":"Huynh","sequence":"first","affiliation":[{"name":"Department of Endocrinology & Diabetes , Queensland Children\u2019s Hospital , South Brisbane , QLD , Australia"},{"name":"Department of Chemical Pathology , Mater Pathology , South Brisbane , QLD , Australia"},{"name":"Faculty of Medicine , The University of Queensland , Brisbane , QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7823-8797","authenticated-orcid":false,"given":"Ronda","family":"Greaves","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics , Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute , Parkville , VIC , Australia"},{"name":"Department of Paediatrics , University of Melbourne , Parkville , VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazha","family":"Mawad","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics , Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute , Parkville , VIC , Australia"},{"name":"Department of Paediatrics , University of Melbourne , Parkville , VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Greed","sequence":"additional","affiliation":[{"name":"Western Australia Newborn Screening Programme , PathWest , WA , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Wotton","sequence":"additional","affiliation":[{"name":"NSW Newborn Screening Programme, The Children\u2019s Hospital at Westmead , Westmead , NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Wiley","sequence":"additional","affiliation":[{"name":"NSW Newborn Screening Programme, The Children\u2019s Hospital at Westmead , Westmead , NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enzo","family":"Ranieri","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics , SA Pathology , Adelaide , SA , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayne","family":"Rankin","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology , SA Pathology , Adelaide , SA , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacobus","family":"Ungerer","sequence":"additional","affiliation":[{"name":"Faculty of Medicine , The University of Queensland , Brisbane , QLD , Australia"},{"name":"Department of Chemical Pathology , Pathology Queensland , Herston , QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricky","family":"Price","sequence":"additional","affiliation":[{"name":"Newborn Screening Unit , Pathology Queensland , Herston , QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianne","family":"Webster","sequence":"additional","affiliation":[{"name":"National Newborn Metabolic Screening programme, Specialist Chemical Pathology , LabPlus , Auckland , New Zealand"},{"name":"Liggins Institute, University of Auckland , Auckland , New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha","family":"Heather","sequence":"additional","affiliation":[{"name":"National Newborn Metabolic Screening programme, Specialist Chemical Pathology , LabPlus , Auckland , New Zealand"},{"name":"Liggins Institute, University of Auckland , Auckland , New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,8,24]]},"reference":[{"key":"2024081409213982954_j_cclm-2022-0403_ref_001","doi-asserted-by":"crossref","unstructured":"Grosse, SD, Van Vliet, G. Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? Arch Dis Child 2011;96:374\u20139, https:\/\/doi.org\/10.1136\/adc.2010.190280.","DOI":"10.1136\/adc.2010.190280"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_002","doi-asserted-by":"crossref","unstructured":"Albert, BB, Heather, N, Derraik, JG, Cutfield, WS, Wouldes, T, Tregurtha, S, et al.. Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring. J Clin Endocrinol Metabol 2013;98:3663\u201370, https:\/\/doi.org\/10.1210\/jc.2013-1903.","DOI":"10.1210\/jc.2013-1903"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_003","doi-asserted-by":"crossref","unstructured":"Rahmani, K, Yarahmadi, S, Etemad, K, Koosha, A, Mehrabi, Y, Aghang, N, et al.. Congenital hypothyroidism: optimal initial dosage and time of initiation of treatment: a systematic review. Int J Endocrinol Metabol 2016;14:e36080, https:\/\/doi.org\/10.5812\/ijem.36080.","DOI":"10.5812\/ijem.36080"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_004","doi-asserted-by":"crossref","unstructured":"Rovet, JF, Ehrlich, R. Psychoeducational outcome in children with early-treated congenital hypothyroidism. Pediatrics 2000;105:515\u201322, https:\/\/doi.org\/10.1542\/peds.105.3.515.","DOI":"10.1542\/peds.105.3.515"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_005","doi-asserted-by":"crossref","unstructured":"Rovet, JF. Congenital hypothyroidism: long-term outcome. Thyroid 1999;9:741\u20138, https:\/\/doi.org\/10.1089\/thy.1999.9.741.","DOI":"10.1089\/thy.1999.9.741"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_006","doi-asserted-by":"crossref","unstructured":"Ellerbroek, VL, Bonfig, W, D\u00f6rr, HG, Bettendorf, M, Hauffa, B, Fricke-Otto, S, et al.. Long-term surveillance of children with congenital hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE \u201cHypo Dok\u201d). Klin P\u00e4diatr 2015;227:199\u2013205, https:\/\/doi.org\/10.1055\/s-0035-1549978.","DOI":"10.1055\/s-0035-1549978"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_007","doi-asserted-by":"crossref","unstructured":"Dussault, JH, Coulombe, P, Laberge, C, Letarte, J, Guyda, H, Khoury, K. Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr 1975;86:670\u20134, https:\/\/doi.org\/10.1016\/s0022-3476(75)80349-0.","DOI":"10.1016\/S0022-3476(75)80349-0"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_008","doi-asserted-by":"crossref","unstructured":"Pitt, D, Francis, I, Wilcken, B, Hill, G, Masters, P, Cusick, E, et al.. Genetic screening of the newborn in Australia. Med J Aust 1977;2:579.","DOI":"10.5694\/j.1326-5377.1977.tb114653.x"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_009","doi-asserted-by":"crossref","unstructured":"Pitt, D, Connelly, J, Francis, I, Wilcken, B, Brown, DA, Robertson, E, et al.. Genetic screening of newborn in Australia: results for 1980. Med J Aust 1982;1:119\u201320, https:\/\/doi.org\/10.5694\/j.1326-5377.1982.tb132198.x.","DOI":"10.5694\/j.1326-5377.1982.tb132198.x"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_010","doi-asserted-by":"crossref","unstructured":"Pitt, D, Connelly, J, Francis, I, Wilcken, B, Brown, DA, Robertson, E, et al.. Genetic screening of newborn in Australia. Results for 1981. Med J Aust 1983;1:333\u20135, https:\/\/doi.org\/10.5694\/j.1326-5377.1983.tb136112.x.","DOI":"10.5694\/j.1326-5377.1983.tb136112.x"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_011","doi-asserted-by":"crossref","unstructured":"Connelly, JF, Coakley, JC, Gold, H, Francis, I, Mathur, KS, Rickards, AL, et al.. Newborn screening for congenital hypothyroidism, Victoria, Australia, 1977\u20131997. Part 1: the screening programme, demography, baseline perinatal data and diagnostic classification. JPEM (J Pediatr Endocrinol Metab) 2001;14:1597\u2013610.","DOI":"10.1515\/JPEM.2001.14.9.1597"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_012","doi-asserted-by":"crossref","unstructured":"Connelly, JF, Rickards, AL, Coakley, JC, Price, GJ, Francis, I, Mathur, KS, et al.. Newborn screening for congenital hypothyroidism, Victoria, Australia, 1977\u20131997. Part 2: treatment, progress and outcome. JPEM (J Pediatr Endocrinol Metab) 2001;14:1611\u201334.","DOI":"10.1515\/JPEM.2001.14.9.1611"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_013","unstructured":"Advisory committee on heritable disorders in newborns and children: recommended uniform screening panel. Rockville, Maryland, USA: Health Resources and Services Administration; 2018. Available from: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/rusp\/index.html."},{"key":"2024081409213982954_j_cclm-2022-0403_ref_014","unstructured":"Key principles for newborn screening (EURORDIS): key principles for newborn screening. EURODIS Rare Diseases Europe; 2021. Available from: https:\/\/www.eurordis.org\/newbornscreening."},{"key":"2024081409213982954_j_cclm-2022-0403_ref_015","doi-asserted-by":"crossref","unstructured":"Loeber, JG. European union should actively stimulate and harmonise neonatal screening initiatives. Int J Neonatal Screen 2018;4:32, https:\/\/doi.org\/10.3390\/ijns4040032.","DOI":"10.3390\/ijns4040032"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_016","unstructured":"Clinical and Laboratory Standards Institute. Harmonized terminology database; 2021. Available from: https:\/\/htd.clsi.org\/listterms.asp?searchdterm=harmonization&button=Submit."},{"key":"2024081409213982954_j_cclm-2022-0403_ref_017","doi-asserted-by":"crossref","unstructured":"L\u00e9ger, J, Olivieri, A, Donaldson, M, Torresani, T, Krude, H, van Vliet, G, et al.. European society for paediatric endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. Horm Res Paediatr 2014;81:80\u2013103, https:\/\/doi.org\/10.1159\/000358198.","DOI":"10.1159\/000358198"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_018","unstructured":"American College of Medical Genetics & Genomics. ACT sheets and algoirthms; 2022. Available from: https:\/\/www.acmg.net\/ACMG\/Medical-Genetics-Practice-Resources\/ACT_Sheets_and_Algorithms\/ACMG\/Medical-Genetics-Practice-Resources\/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508."},{"key":"2024081409213982954_j_cclm-2022-0403_ref_019","doi-asserted-by":"crossref","unstructured":"van Trotsenburg, P, Stoupa, A, L\u00e9ger, J, Rohrer, T, Peters, C, Fugazzola, L, et al.. Congenital hypothyroidism: a 2020\u20132021 consensus guidelines update-an ENDO-European reference network initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology. Thyroid 2021;31:387\u2013419, https:\/\/doi.org\/10.1089\/thy.2020.0333.","DOI":"10.1089\/thy.2020.0333"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_020","doi-asserted-by":"crossref","unstructured":"Mart\u00ednez-Morillo, E, Prieto Garc\u00eda, B, \u00c1lvarez Men\u00e9ndez, FV. Challenges for worldwide harmonization of newborn screening programs. Clin Chem 2016;62:689\u201398, https:\/\/doi.org\/10.1373\/clinchem.2015.240903.","DOI":"10.1373\/clinchem.2015.240903"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_021","doi-asserted-by":"crossref","unstructured":"Ford, G, LaFranchi, SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metabol 2014;28:175\u201387, https:\/\/doi.org\/10.1016\/j.beem.2013.05.008.","DOI":"10.1016\/j.beem.2013.05.008"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_022","doi-asserted-by":"crossref","unstructured":"Pollitt, RJ. Evidence or enthusiasm? Why yields from UK newborn screening programmes for congenital hypothyroidism are increasing. Arch Dis Child 2016;101:120\u20133, https:\/\/doi.org\/10.1136\/archdischild-2015-309546.","DOI":"10.1136\/archdischild-2015-309546"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_023","doi-asserted-by":"crossref","unstructured":"Lain, S, Trumpff, C, Grosse, SD, Olivieri, A, Van Vliet, G. Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? Eur J Endocrinol 2017;177:D1\u201312, https:\/\/doi.org\/10.1530\/eje-17-0107.","DOI":"10.1530\/EJE-17-0107"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_024","unstructured":"2020 annual summary report: newborn screening quality assurance program. Atlanta, Georgia, USA: Centers for Disease Control and Prevention; 2021."},{"key":"2024081409213982954_j_cclm-2022-0403_ref_025","doi-asserted-by":"crossref","unstructured":"Knowles, RL, Oerton, J, Cheetham, T, Butler, G, Cavanagh, C, Tetlow, L, et al.. Newborn screening for primary congenital hypothyroidism: estimating test performance at different TSH thresholds. J Clin Endocrinol Metabol 2018;103:3720\u20138, https:\/\/doi.org\/10.1210\/jc.2018-00658.","DOI":"10.1210\/jc.2018-00658"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_026","doi-asserted-by":"crossref","unstructured":"Caiulo, S, Corbetta, C, Di Frenna, M, Medda, E, De Angelis, S, Rotondi, D, et al.. Newborn screening for congenital hypothyroidism: the benefit of using differential TSH cutoffs in a two-screen program. J Clin Endocrinol Metabol 2021;106:e338\u201349.","DOI":"10.1210\/clinem\/dgaa789"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_027","doi-asserted-by":"crossref","unstructured":"Lain, SJ, Bentley, JP, Wiley, V, Roberts, CL, Jack, M, Wilcken, B, et al.. Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study. Lancet Diabetes Endocrinol 2016;4:756\u201365, https:\/\/doi.org\/10.1016\/s2213-8587(16)30122-x.","DOI":"10.1016\/S2213-8587(16)30122-X"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_028","doi-asserted-by":"crossref","unstructured":"West, R, Hong, J, Derraik, JGB, Webster, D, Heather, NL, Hofman, PL. Newborn screening TSH values less than 15 mIU\/L are not associated with long-term hypothyroidism or cognitive\u00a0impairment. J Clin Endocrinol Metabol 2020;105:e3329\u201338, https:\/\/doi.org\/10.1210\/clinem\/dgaa415.","DOI":"10.1210\/clinem\/dgaa415"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_029","doi-asserted-by":"crossref","unstructured":"Fisher, DA. Thyroid system immaturities in very low birth weight premature infants. Semin Perinatol 2008;32:387\u201397, https:\/\/doi.org\/10.1053\/j.semperi.2008.09.003.","DOI":"10.1053\/j.semperi.2008.09.003"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_030","doi-asserted-by":"crossref","unstructured":"van Trotsenburg, AS, Stoupa, A, L\u00e9ger, J, Rohrer, TR, Peters, C, Fugazzola, L, et al.. Congenital hypothyroidism: a 2020 consensus guidelines update an ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology. Thyroid 2020;31:387\u2013419, https:\/\/doi.org\/10.1089\/thy.2020.0333.","DOI":"10.1089\/thy.2020.0333"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_031","doi-asserted-by":"crossref","unstructured":"Mengreli, C, Kanaka-Gantenbein, C, Girginoudis, P, Magiakou, MA, Christakopoulou, I, Giannoulia-Karantana, A, et al.. Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. J Clin Endocrinol Metabol 2010;95:4283\u201390, https:\/\/doi.org\/10.1210\/jc.2010-0057.","DOI":"10.1210\/jc.2010-0057"},{"key":"2024081409213982954_j_cclm-2022-0403_ref_032","doi-asserted-by":"crossref","unstructured":"Fisher, DA. Effectiveness of newborn screening programs for congenital hypothyroidism: prevalence of missed cases. Pediatr Clin 1987;34:881\u201390, https:\/\/doi.org\/10.1016\/s0031-3955(16)36292-7.","DOI":"10.1016\/S0031-3955(16)36292-7"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2022-0403\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2022-0403\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T09:26:53Z","timestamp":1723627613000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2022-0403\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,24]]},"references-count":32,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,7,20]]},"published-print":{"date-parts":[[2022,9,27]]}},"alternative-id":["10.1515\/cclm-2022-0403"],"URL":"https:\/\/doi.org\/10.1515\/cclm-2022-0403","relation":{},"ISSN":["1434-6621","1437-4331"],"issn-type":[{"value":"1434-6621","type":"print"},{"value":"1437-4331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,24]]}}}