{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T22:31:41Z","timestamp":1788215501212,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T00:00:00Z","timestamp":1643241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001782","name":"University of Melbourne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001782","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1196010"],"award-info":[{"award-number":["1196010"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014555","name":"Murdoch Children's Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014555","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To analyze population\u2010based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non\u2010invasive prenatal testing (NIPT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective state\u2010wide data for all prenatal diagnoses performed &lt;25\u00a0weeks gestation from 2005 to 2020 in Victoria, Australia. Non\u2010invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the \u03c7<jats:sup>2<\/jats:sup> test for trend, with <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.05 considered significant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population\u2010wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6103","type":"journal-article","created":{"date-parts":[[2022,1,20]],"date-time":"2022-01-20T06:03:14Z","timestamp":1642658594000},"page":"156-161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["State\u2010wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non\u2010invasive prenatal testing for sex chromosome conditions"],"prefix":"10.1002","volume":"43","author":[{"given":"Lulu","family":"Loughry","sequence":"first","affiliation":[{"name":"Reproductive Epidemiology Group Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2360-0781","authenticated-orcid":false,"given":"Cecilia","family":"Pynaker","sequence":"additional","affiliation":[{"name":"Reproductive Epidemiology Group Murdoch Children's Research Institute  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"White","sequence":"additional","affiliation":[{"name":"Reproductive Epidemiology Group Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Parkville Victoria Australia"},{"name":"Department of Endocrinology &amp; Diabetes The Royal Children's Hospital  Parkville Victoria Australia"},{"name":"Health Services Research Unit The Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Halliday","sequence":"additional","affiliation":[{"name":"Reproductive Epidemiology Group Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9720-3562","authenticated-orcid":false,"given":"Lisa","family":"Hui","sequence":"additional","affiliation":[{"name":"Reproductive Epidemiology Group Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Obstetrics and Gynaecology University of Melbourne  Parkville Victoria Australia"},{"name":"Department of Perinatal Medicine Mercy Hospital for Women  Heidelberg Victoria Australia"},{"name":"Department of Obstetrics and Gynaecology Northern Health, Epping  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5363"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.55"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14699"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21899"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-42"},{"issue":"2","key":"e_1_2_9_7_1","first-page":"119","article-title":"Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update","volume":"28","author":"Benn P","year":"2016","journal-title":"Curr Opin Obstet Gynecol"},{"key":"e_1_2_9_8_1","unstructured":"Royal Australian and New Zealand College of Obstetricians and Gynaecologists\/Human Genetics Society Australasia.Prenatal screening and diagnosis testing for fetal chromosomal and genetic conditions.2018. 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