{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:10:54Z","timestamp":1790619054708,"version":"4.1.0"},"reference-count":12,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Introduction:<\/i><\/b> Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH-related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the Danish CAH screening is evaluated by comparing incidence and morbidity of SW-CAH 10 years before and after introduction of screening. Furthermore, sensitivity, specificity, and PPV are determined. <b><i>Methods:<\/i><\/b> All newborns in Denmark born during 1999\u20132018 and diagnosed with SW-CAH were identified in the Danish National Patient Registry and\/or at the Department of Clinical Genetics, Rigshospitalet. Newborns with a positive neonatal CAH screening were identified at Statens Serum Institut. Correct diagnosis was evaluated by medical record review. <b><i>Results:<\/i><\/b> A total of 65 newborns with SW-CAH were identified. The incidence of SW-CAH was 5:100,000 both before and after introduction of screening. Performance of sensitivity and specificity of the screening were 97% and 100%, respectively, and the PPV was 55% for the given period. Stratified according to gestational age, the PPV was 33% and 61% for pre -and fullterm newborns, respectively. Though not significant, the proportion of newborns presenting with SW-crisis decreased after introduction of screening from 29% versus 10% (<i>p<\/i> = 0.07). <b><i>Discussion and Conclusion:<\/i><\/b> Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency toward a lower proportion of newborns with SW-crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns. <\/jats:p>","DOI":"10.1159\/000522230","type":"journal-article","created":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T22:00:35Z","timestamp":1643925635000},"page":"35-42","source":"Crossref","is-referenced-by-count":23,"title":["Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience"],"prefix":"10.1159","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2585-8102","authenticated-orcid":false,"given":"Marie","family":"Lind-Holst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"B\u00e6kvad-Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnethe","family":"Berglund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6410-7702","authenticated-orcid":false,"given":"Arieh S.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Melgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Skogstrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina M.","family":"Main","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David Michael","family":"Hougaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5924-1720","authenticated-orcid":false,"given":"Claus H\u00f8jbjerg","family":"Gravholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6598-9740","authenticated-orcid":false,"given":"Dorte","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2022,2,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31431-9"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.101.4.e11"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2009.148"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-012093"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2011-300234"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6030063"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000501396"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6010006"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-1219"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6030067"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2007.11.006"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304473"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/522230","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/522230","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:48:47Z","timestamp":1745423327000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000522230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,5,10]]},"published-print":{"date-parts":[[2022,5,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000522230","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.19114355","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}