{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:03:11Z","timestamp":1786993391222,"version":"build-2736575974"},"reference-count":28,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01 HD093450"],"award-info":[{"award-number":["R01 HD093450"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpurol.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Pediatric Urology"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1016\/j.jpurol.2019.11.005","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T03:04:44Z","timestamp":1574219084000},"page":"89-96","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Prenatal detection and evaluation of differences of sex development"],"prefix":"10.1016","volume":"16","author":[{"given":"Esther L.","family":"Finney","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney","family":"Finlayson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilina","family":"Rosoklija","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Leeth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7302-9248","authenticated-orcid":false,"given":"Diane","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth B.","family":"Yerkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Earl Y.","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie K.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpurol.2019.11.005_bib1","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/nrendo.2015.69","article-title":"Disorders of sex development: effect of molecular diagnostics","volume":"11","author":"Achermann","year":"2015","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib2","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1002\/pd.5184","article-title":"Sex discordance identification following non-invasive prenatal testing","volume":"37","author":"Richardson","year":"2017","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpurol.2019.11.005_bib3","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s00404-016-4077-y","article-title":"Discordance between ultrasound and cell free DNA screening for monosomy X","volume":"294","author":"Kagan","year":"2016","journal-title":"Arch Gynecol Obstet"},{"key":"10.1016\/j.jpurol.2019.11.005_bib4","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1002\/ccr3.352","article-title":"Prenatal diagnosis of a 46, XX male following noninvasive prenatal testing","volume":"3","author":"Mansfield","year":"2015","journal-title":"Clin Case Rep"},{"key":"10.1016\/j.jpurol.2019.11.005_bib5","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1002\/pd.4867","article-title":"Fetal sex determination using NIPT and ultrasound as a method for diagnosing important fetal sex abnormalities","volume":"36","author":"Lynch","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpurol.2019.11.005_bib6","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/uog.14681","article-title":"Prenatal diagnosis of androgen insensitivity syndrome using cell-free fetal DNA testing","volume":"45","author":"Zilberman","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib7","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/jp.2014.231","article-title":"Discrepancy in fetal sex assignment between cell free fetal DNA and ultrasound","volume":"35","author":"Iruretagoyena","year":"2015","journal-title":"J Perinatol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib8","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1097\/AOG.0000000000000503","article-title":"Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis","volume":"125","author":"Franasiak","year":"2015","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib9","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1002\/pd.5146","article-title":"Clinical accuracy of abnormal cell-free fetal DNA results for the sex chromosomes","volume":"37","author":"Scibetta","year":"2017","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpurol.2019.11.005_bib10","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1038\/s41372-018-0278-5","article-title":"Discordant sex between fetal screening and postnatal phenotype requires evaluation","volume":"39","author":"Byers","year":"2019","journal-title":"J Perinatol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib11","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/gim.2016.97","article-title":"Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics","volume":"18","author":"Gregg","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.jpurol.2019.11.005_bib12","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1097\/AOG.0000000000000637","article-title":"Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology","volume":"125","author":"Bianchi","year":"2015","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib13","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1002\/ajmg.a.35338","article-title":"Ambiguous genitalia: what prenatal genetic testing is practical?","volume":"158A","author":"Adam","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpurol.2019.11.005_bib14","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/uog.7679","article-title":"Diagnostic approach in prenatally detected genital abnormalities","volume":"35","author":"Chitayat","year":"2010","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib15","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1002\/pd.4639","article-title":"Cell-free DNA screening and sex chromosome aneuploidies","volume":"35","author":"Mennuti","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpurol.2019.11.005_bib16","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1373\/clinchem.2013.215145","article-title":"Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing","volume":"60","author":"Wang","year":"2014","journal-title":"Clin Chem."},{"key":"10.1016\/j.jpurol.2019.11.005_bib17","doi-asserted-by":"crossref","first-page":"679","DOI":"10.3390\/jcm3030679","article-title":"Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins","volume":"3","author":"Gromminger","year":"2014","journal-title":"J Clin Med"},{"key":"10.1016\/j.jpurol.2019.11.005_bib18","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/pd.4804","article-title":"The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon","volume":"36","author":"Yaron","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpurol.2019.11.005_bib19","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)\u2013a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J Biomed Inform"},{"key":"10.1016\/j.jpurol.2019.11.005_bib20","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1542\/peds.2006-0737","article-title":"Writing Committee for the International Intersex Consensus Conference P. Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference","volume":"118","author":"Houk","year":"2006","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpurol.2019.11.005_bib21","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/pd.5039","article-title":"Sex\u00a0chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?","volume":"37","author":"Reiss","year":"2017","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpurol.2019.11.005_bib22","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1038\/ejhg.2015.109","article-title":"Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening","volume":"23","author":"Dondorp","year":"2015","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.jpurol.2019.11.005_bib23","first-page":"9","article-title":"Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis","volume":"53","author":"Slijper","year":"2000","journal-title":"Horm Res."},{"key":"10.1016\/j.jpurol.2019.11.005_bib24","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1159\/000339863","article-title":"Challenges of disorders of sex development: diverse perceptions across stakeholders","volume":"78","author":"Kogan","year":"2012","journal-title":"Horm Res Paediatr."},{"key":"10.1016\/j.jpurol.2019.11.005_bib25","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s10508-013-0196-8","article-title":"Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development","volume":"43","author":"Pasterski","year":"2014","journal-title":"Arch Sex Behav"},{"key":"10.1016\/j.jpurol.2019.11.005_bib26","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/uog.14791","article-title":"Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis","volume":"45","author":"Gil","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.jpurol.2019.11.005_bib27","doi-asserted-by":"crossref","first-page":"e7114","DOI":"10.1097\/MD.0000000000007114","article-title":"Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood","volume":"96","author":"Yu","year":"2017","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.jpurol.2019.11.005_bib28","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1002\/pd.5339","article-title":"Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making","volume":"38","author":"Ramdaney","year":"2018","journal-title":"Prenat Diagn"}],"container-title":["Journal of Pediatric Urology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1477513119303870?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1477513119303870?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T13:48:36Z","timestamp":1761486516000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1477513119303870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["S1477513119303870"],"URL":"https:\/\/doi.org\/10.1016\/j.jpurol.2019.11.005","relation":{},"ISSN":["1477-5131"],"issn-type":[{"value":"1477-5131","type":"print"}],"subject":[],"published":{"date-parts":[[2020,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal detection and evaluation of differences of sex development","name":"articletitle","label":"Article Title"},{"value":"Journal of Pediatric Urology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpurol.2019.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}