{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:10:53Z","timestamp":1790619053549,"version":"4.1.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T00:00:00Z","timestamp":1622419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100020473","name":"Australasian Paediatric Endocrine Group","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100020473","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Australasian Society of Inborn Errors of Metabolism"},{"name":"LabPlus"},{"DOI":"10.13039\/100015447","name":"Auckland District Health Board","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015447","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>The positive predictive value of newborn screening for congenital adrenal hyperplasia (CAH) in New Zealand is approximately 10%. The use of a second tier liquid chromatography-tandem mass spectrometry bloodspot steroid profile test with birth weight\u2013 or gestational age\u2013adjusted screening cutoffs may result in further screening improvements.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Three years of newborn screening data with additional second-tier steroid metabolites was evaluated (n\u2005=\u2005167 672 births). Data from babies with a negative screening test and confirmed CAH cases were compared. First- and second-tier steroid measurements were correlated with both birth weight and gestational age. Analysis of variance was used to determine birth weight and gestational age groups. Screening cutoffs were determined and applied retrospectively to model screening performance.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>First-tier immunoassay data correlated better with gestational age than with birth weight, but there was no difference with second-tier steroid measurements. Four distinct birth weight and gestational age groups were established for 17-hydroxyprogesterone and a steroid ratio measurement. Application of 97.5th percentile second-tier birth weight\u2013 or gestational age\u2013adjusted cutoffs would result in 10 positive tests over the period of the study with 8 true-positive screens and 2 false-positive tests. The positive predictive value of screening would be increased from 10.8% to 80%.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The use of either birth weight\u2013 or gestational age\u2013adjusted cutoffs for second-tier screening tests can significantly reduce the false positive rate of newborn screening for CAH in New Zealand without loss in screening sensitivity.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgab383","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T23:50:00Z","timestamp":1622505000000},"page":"e3390-e3399","source":"Crossref","is-referenced-by-count":10,"title":["Birth Weight\u2013 or Gestational Age\u2013adjusted Second-tier LCMSMS Cutoffs Improve Newborn Screening for CAH in New Zealand"],"prefix":"10.1210","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5142-4239","authenticated-orcid":false,"given":"Mark R","family":"de Hora","sequence":"first","affiliation":[{"name":"Newborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland, New Zealand"},{"name":"Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2895-3279","authenticated-orcid":false,"given":"Natasha L","family":"Heather","sequence":"additional","affiliation":[{"name":"Newborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland, New Zealand"},{"name":"Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4518-0626","authenticated-orcid":false,"given":"Dianne","family":"Webster","sequence":"additional","affiliation":[{"name":"Newborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland, New Zealand"},{"name":"Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin B","family":"Albert","sequence":"additional","affiliation":[{"name":"Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul L","family":"Hofman","sequence":"additional","affiliation":[{"name":"Clinical Research Unit, Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2021,5,31]]},"reference":[{"issue":"1","key":"2021120108550807300_CIT0001","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1210\/er.2010-0013","article-title":"The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders","volume":"32","author":"Miller","year":"2011","journal-title":"Endocr Rev."},{"issue":"11","key":"2021120108550807300_CIT0002","doi-asserted-by":"crossref","first-page":"4043","DOI":"10.1210\/jc.2018-01865","article-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline","volume":"103","author":"Speiser","year":"2018","journal-title":"J Clin Endocrinol Metab."},{"issue":"3","key":"2021120108550807300_CIT0003","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1210\/jc.2014-3168","article-title":"Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013","volume":"100","author":"Heather","year":"2015","journal-title":"J Clin Endocrinol Metab."},{"issue":"9","key":"2021120108550807300_CIT0004","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1093\/clinchem\/38.9.1830","article-title":"Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays","volume":"38","author":"Wong","year":"1992","journal-title":"Clin Chem."},{"issue":"13","key":"2021120108550807300_CIT0005","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1016\/j.steroids.2011.07.013","article-title":"Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography-tandem mass spectrometry","volume":"76","author":"Janzen","year":"2011","journal-title":"Steroids."},{"issue":"19","key":"2021120108550807300_CIT0006","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1016\/j.jchromb.2011.03.048","article-title":"Simultaneous quantification of 17 alpha-OH progesterone, 11-deoxycortisol, Delta 4-androstenedione, cortisol and cortisone in newborn blood spots using liquid chromatography-tandem mass spectrometry","volume":"879","author":"Magnisali","year":"2011","journal-title":"J Chromatogr B."},{"issue":"6","key":"2021120108550807300_CIT0007","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1111\/cen.14422","article-title":"Implementing steroid profiling by liquid chromatography-tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand","volume":"94","author":"de Hora","year":"2021","journal-title":"Clin Endocrinol (Oxf)."},{"issue":"1","key":"2021120108550807300_CIT0008","doi-asserted-by":"crossref","first-page":"6","DOI":"10.3390\/ijns6010006","article-title":"Measurement of 17-hydroxyprogesterone by LCMSMS improves newborn screening for CAH due to 21-hydroxylase deficiency in New Zealand","volume":"6","author":"de Hora","year":"2020","journal-title":"Int J Neonatal Screen."},{"issue":"2","key":"2021120108550807300_CIT0009","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1203\/PDR.0b013e3181aa3777","article-title":"Use of steroid profiling by UPLC-MS\/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience","volume":"66","author":"Schwarz","year":"2009","journal-title":"Pediatr Res."},{"issue":"1","key":"2021120108550807300_CIT0010","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1515\/jpm-2013-0154","article-title":"Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation","volume":"42","author":"Seo","year":"2014","journal-title":"J Perinat Med."},{"issue":"6","key":"2021120108550807300_CIT0011","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1001\/jamapediatrics.2013.5321","article-title":"Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study","volume":"168","author":"Gidl\u00f6f","year":"2014","journal-title":"JAMA Pediatr."},{"key":"2021120108550807300_CIT0012","doi-asserted-by":"crossref","first-page":"37","DOI":"10.3390\/ijns6020037","article-title":"Newborn screening protocols and positive predictive value for congenital adrenal hyperplasia vary across the United States","volume":"6","author":"Speiser","year":"2020","journal-title":"Int J Neonat Screen."},{"issue":"3","key":"2021120108550807300_CIT0013","doi-asserted-by":"crossref","first-page":"33","DOI":"10.3390\/ijns5030033","article-title":"Wisconsin\u2019s screening algorithm for the identification of newborns with congenital adrenal hyperplasia","volume":"5","author":"Bialk","year":"2019","journal-title":"Int J Neonatal Screen."},{"issue":"7","key":"2021120108550807300_CIT0014","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1210\/jc.2006-2890","article-title":"Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry","volume":"92","author":"Janzen","year":"2007","journal-title":"J Clin Endocrinol Metab."},{"key":"2021120108550807300_CIT0015","author":"Ministry of Health (New Zealand).","year":"2019"},{"issue":"3","key":"2021120108550807300_CIT0016","doi-asserted-by":"crossref","first-page":"e0121945","DOI":"10.1371\/journal.pone.0121945","article-title":"cocor: a comprehensive solution for the statistical comparison of correlations","volume":"10","author":"Diedenhofen","year":"2015","journal-title":"PloS One."},{"key":"2021120108550807300_CIT0017","article-title":"The International Statistical Classification of Diseases and Related Health Problems. 10th rev","author":"World Health Organization","year":"2009"},{"issue":"7","key":"2021120108550807300_CIT0018","doi-asserted-by":"crossref","first-page":"3904","DOI":"10.1210\/jc.2004-2136","article-title":"Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight","volume":"90","author":"van der Kamp","year":"2005","journal-title":"J Clin Endocrinol Metab."},{"issue":"2","key":"2021120108550807300_CIT0019","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/j.jpeds.2014.04.011","article-title":"Reduced activity of 11\u03b2-hydroxylase accounts for elevated 17\u03b1-hydroxyprogesterone in preterms","volume":"165","author":"Kamrath","year":"2014","journal-title":"J Pediatr."},{"issue":"2","key":"2021120108550807300_CIT0020","first-page":"266","article-title":"Adrenal steroidogenesis in very low birth weight preterm infants","volume":"78","author":"Hingre","year":"1994","journal-title":"J Clin Endocrinol Metab."},{"issue":"3","key":"2021120108550807300_CIT0021","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1210\/er.2010-0001","article-title":"Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit","volume":"32","author":"Ishimoto","year":"2011","journal-title":"Endocr Rev."},{"issue":"3","key":"2021120108550807300_CIT0022","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1203\/00006450-200209000-00017","article-title":"Maturity of the adrenal cortex in very preterm infants is related to gestational age","volume":"52","author":"Bolt","year":"2002","journal-title":"Pediatr Res."},{"issue":"23-24","key":"2021120108550807300_CIT0023","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1016\/j.cca.2011.07.009","article-title":"An automated method on analysis of blood steroids using liquid chromatography tandem mass spectrometry: application to population screening for congenital adrenal hyperplasia in newborns","volume":"412","author":"Dhillon","year":"2011","journal-title":"Clin Chim Acta."},{"issue":"5","key":"2021120108550807300_CIT0024","doi-asserted-by":"crossref","first-page":"e1261","DOI":"10.1542\/peds.2012-1219","article-title":"Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia","volume":"130","author":"Sarafoglou","year":"2012","journal-title":"Pediatrics."},{"issue":"4","key":"2021120108550807300_CIT0025","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jpeds.2005.04.035","article-title":"Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls","volume":"147","author":"Varness","year":"2005","journal-title":"J Pediatr."},{"key":"2021120108550807300_CIT0026","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgmr.2016.02.005","article-title":"Newborn screening for congenital adrenal hyperplasia in New York State","volume":"7","author":"Pearce","year":"2016","journal-title":"Mol Genet Metab Rep."},{"issue":"2","key":"2021120108550807300_CIT0027","doi-asserted-by":"crossref","first-page":"79","DOI":"10.5694\/mja2.50676","article-title":"New Australian birthweight centiles","volume":"213","author":"Joseph","year":"2020","journal-title":"Med J Aust."},{"issue":"5","key":"2021120108550807300_CIT0028","doi-asserted-by":"crossref","first-page":"e0233724","DOI":"10.1371\/journal.pone.0233724","article-title":"Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia","volume":"15","author":"Grecs\u00f3","year":"2020","journal-title":"PloS One."}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgab383\/38819476\/dgab383.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/106\/9\/e3390\/41379500\/dgab383.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/106\/9\/e3390\/41379500\/dgab383.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T13:50:04Z","timestamp":1638366604000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/106\/9\/e3390\/6290255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,31]]},"references-count":28,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,5,31]]},"published-print":{"date-parts":[[2021,8,18]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgab383","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,9,1]]},"published":{"date-parts":[[2021,5,31]]}}}