{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T21:20:27Z","timestamp":1788384027521,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2017,12,29]],"date-time":"2017-12-29T00:00:00Z","timestamp":1514505600000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The objectives of this study were to characterise genotype\u2010phenotype discordance identified in the routine clinical setting and to explore the associated diagnostic and counselling challenges.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>Cases were derived from a cohort of pregnant women who attended a multisite specialist prenatal screening and ultrasound service for non\u2010invasive prenatal testing by cell\u2010free DNA analysis and midtrimester fetal morphology assessment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seven cases of genotype\u2010phenotype discordance were identified from a cohort of 12\u00a0919 women between June 2013 and March 2017 (incidence 1\/1845 pregnancies). A variety of disorders of sexual differentiation were subsequently diagnosed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Sex chromosomes are the basis of sexual differentiation during embryonic development. Variations of the traditional XX or XY karyotype may result in conditions where the genotype is discordant with the phenotype. Detection of these conditions in the past typically occurred during adolescence, due to delayed puberty, or during adulthood, due to infertility. With the increasing availability of non\u2010invasive prenatal testing and high\u2010resolution ultrasound, more cases of genotype\u2010phenotype sex discordance are being identified in routine clinical practice during early pregnancy. These discordant results present significant diagnostic and counselling challenges, and their potential should be included in increasingly complex pre\u2010NIPT counselling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.5184","type":"journal-article","created":{"date-parts":[[2017,11,13]],"date-time":"2017-11-13T06:28:40Z","timestamp":1510554520000},"page":"1298-1304","source":"Crossref","is-referenced-by-count":39,"title":["Sex discordance identification following non\u2010invasive prenatal testing"],"prefix":"10.1002","volume":"37","author":[{"given":"Ebony J.","family":"Richardson","sequence":"first","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus P.","family":"Scott","sequence":"additional","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"},{"name":"Faculty of Medicine University of New South Wales  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8979-4534","authenticated-orcid":false,"given":"Andrew C.","family":"McLennan","sequence":"additional","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"},{"name":"Discipline of Obstetrics, Gynaecology and Neonatology, Faculty of Medicine University of Sydney  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,29]]},"reference":[{"issue":"8","key":"e_1_2_7_2_1","first-page":"633","article-title":"Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders","volume":"41","author":"Kucinskas L","year":"2005","journal-title":"Medicina (Kaunas)"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.57"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5039"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.352"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13334"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.012"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000479460"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.7120"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.5184","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.5184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T15:56:38Z","timestamp":1696002998000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.5184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":8,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/pd.5184"],"URL":"https:\/\/doi.org\/10.1002\/pd.5184","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12]]}}}