{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:55:32Z","timestamp":1791831332842,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,1,31]],"date-time":"2021-01-31T00:00:00Z","timestamp":1612051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the impact of a liquid chromatography\u2010tandem mass spectrometry (LCMSMS) second\u2010tier test on newborn screening for congenital adrenal hyperplasia due to 21\u2010hydroxylase deficiency (CAH) in New Zealand.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>In a prospective study, a LCMSMS method to measure 17\u2010hydroxyprogesterone (17OHP) was adapted to measure four additional steroids. Steroid concentrations were collected on all second\u2010tier CAH screening tests while protocols remained unchanged. Steroid ratio parameters with recommended or published screening cuts\u2010offs were evaluated for their impact on newborn screening performance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements<\/jats:title>\n                    <jats:p>Precision, accuracy, linearity and recovery of the second\u2010tier LCMSMS method were evaluated. Second\u2010tier specimens were divided in 3 groups; newborn screening bloodspots from neonates with confirmed CAH (n\u00a0=\u00a07) and 2 groups specimens from neonates with a birthweight (BW) \u22641500\u00a0g (n\u00a0=\u00a0795) and with a BW\u00a0&gt;\u00a01500\u00a0g (n\u00a0=\u00a0806) with a negative newborn screening test. Six protocols using four steroid ratio parameters were evaluated. The sensitivity, specificity, false positive rate and positive predictive value of screening was calculated for each protocol.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The LCMSMS method was sufficiently accurate and precise to be used as a second\u2010tier test for CAH. Screening sensitivity remained at 100% for each protocol apart from (17OHP\u00a0+\u00a0androstenedione)\/cortisol when the highest cut\u2010off of 3.75 was applied. The false positive rate was significantly improved when (17OHP\u00a0+\u00a0androstenedione)\/cortisol and (17OHP\u00a0+\u00a021\u2010deoxycortisol)\/cortisol were evaluated with cut\u2010offs of 2.5 and 1.5 respectively (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0&lt;\u00a0.01) and both with a positive predictive value of 64%.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A second\u2010tier LCMSMS newborn screening test for CAH offers significant improvements to screening specificity without any other changes to screening protocols.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.14422","type":"journal-article","created":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T10:08:55Z","timestamp":1611137335000},"page":"904-912","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Implementing steroid profiling by liquid chromatography\u2010tandem mass spectrometry improves newborn screening for congenital adrenal hyperplasia in New Zealand"],"prefix":"10.1111","volume":"94","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"}]},{"given":"Tejal","family":"Patel","sequence":"additional","affiliation":[{"name":"Newborn Screening Specialist Chemical Pathology LabPlus Auckland City Hospital Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren G.","family":"Bresnahan","sequence":"additional","affiliation":[{"name":"Newborn Screening Specialist Chemical Pathology LabPlus Auckland City Hospital Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianne","family":"Webster","sequence":"additional","affiliation":[{"name":"Newborn Screening Specialist Chemical Pathology LabPlus Auckland City Hospital 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":"311","published-online":{"date-parts":[[2021,1,31]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2010-0013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01865"},{"issue":"4","key":"e_1_2_8_4_1","first-page":"650","article-title":"High frequency of nonclassical steroid 21\u2010hydroxylase deficiency","volume":"37","author":"Speiser PW","year":"1985","journal-title":"Am J Hum 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