{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:04:09Z","timestamp":1790420649442,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,14]],"date-time":"2023-05-14T00:00:00Z","timestamp":1684022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004337","name":"Roche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004337","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020295","name":"Natera Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020295","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.gim.2023.100879","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T16:52:04Z","timestamp":1683305524000},"page":"100879","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Performance of prenatal cfDNA screening for sex chromosomes"],"prefix":"10.1016","volume":"25","author":[{"given":"Kimberly","family":"Martin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pe\u2019er","family":"Dar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cora","family":"MacPherson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Egbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zachary","family":"Demko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheetal","family":"Parmar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelyn","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Haeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergal","family":"Malone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Wapner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley S.","family":"Roman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revital","family":"Faro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeevi","family":"Madankumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noel","family":"Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Silver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidhi","family":"Vohra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Hyett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"Rabinowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlly","family":"Kao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Jacobsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5967-1701","authenticated-orcid":false,"given":"Mary E.","family":"Norton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.gim.2023.100879_bib1","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmg.14.5.309","article-title":"Chromosome anomalies among livebirths","volume":"14","author":"Evans","year":"1977","journal-title":"J\u00a0Med Genet"},{"issue":"6","key":"10.1016\/j.gim.2023.100879_bib2","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/j.rbmo.2020.02.001","article-title":"Cytogenetic testing of pregnancy loss tissue: a meta-analysis","volume":"40","author":"Smits","year":"2020","journal-title":"Reprod Biomed Online"},{"issue":"4","key":"10.1016\/j.gim.2023.100879_bib3","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1469-1809.1974.tb01843.x","article-title":"A\u00a0cytogenetic survey of 11,680 newborn infants","volume":"37","author":"Jacobs","year":"1974","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.gim.2023.100879_bib4","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-5-8","article-title":"A\u00a0review of trisomy X (47,XXX)","volume":"5","author":"Tartaglia","year":"2010","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.gim.2023.100879_bib5","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1097\/DBP.0000000000000429","article-title":"Autism spectrum disorder in males with sex chromosome aneuploidy: XXY\/Klinefelter syndrome, XYY, and XXYY","volume":"38","author":"Tartaglia","year":"2017","journal-title":"J\u00a0Dev Behav Pediatr"},{"issue":"2","key":"10.1016\/j.gim.2023.100879_bib6","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/ajmg.c.31788","article-title":"The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)","volume":"184","author":"Urbanus","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"10.1016\/j.gim.2023.100879_bib7","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1007\/s10897-018-0268-y","article-title":"Genetic counselors\u2019 perspectives about cell-free DNA: experiences, challenges, and expectations for obstetricians","volume":"27","author":"Agatisa","year":"2018","journal-title":"J\u00a0Genet Couns"},{"issue":"10","key":"10.1016\/j.gim.2023.100879_bib8","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1002\/pd.5814","article-title":"Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing","volume":"41","author":"L\u00fcthgens","year":"2021","journal-title":"Prenat Diagn"},{"issue":"11","key":"10.1016\/j.gim.2023.100879_bib9","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1002\/pd.2835","article-title":"Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation","volume":"31","author":"Sayres","year":"2011","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.gim.2023.100879_bib10","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.1017\/S0016672319000119","article-title":"Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory","volume":"101","author":"Togneri","year":"2019","journal-title":"Genet Res (Camb)"},{"issue":"3","key":"10.1016\/j.gim.2023.100879_bib11","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/uog.17484","article-title":"Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis","volume":"50","author":"Gil","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"7","key":"10.1016\/j.gim.2023.100879_bib12","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1963","article-title":"Systematic analysis of the causes of NIPS sex chromosome aneuploidy false-positive results","volume":"10","author":"Lyu","year":"2022","journal-title":"Mol Genet Genomic Med"},{"issue":"25","key":"10.1016\/j.gim.2023.100879_bib13","doi-asserted-by":"crossref","first-page":"9647","DOI":"10.1080\/14767058.2022.2050362","article-title":"Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing","volume":"35","author":"Wan","year":"2022","journal-title":"J\u00a0Matern Fetal Neonatal Med"},{"issue":"1","key":"10.1016\/j.gim.2023.100879_bib14","doi-asserted-by":"crossref","first-page":"7767","DOI":"10.1038\/s41598-019-44018-4","article-title":"Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital","volume":"9","author":"Deng","year":"2019","journal-title":"Sci Rep"},{"issue":"9","key":"10.1016\/j.gim.2023.100879_bib15","doi-asserted-by":"crossref","DOI":"10.1002\/jgm.3362","article-title":"An assessment of the analytical performance of non-invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717-patient sample in a single prenatal diagnosis centre in China","volume":"23","author":"Luo","year":"2021","journal-title":"J\u00a0Gene Med"},{"issue":"7","key":"10.1016\/j.gim.2023.100879_bib16","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1297","article-title":"Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: report of five cases and systematic review of evidence","volume":"8","author":"Xie","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.gim.2023.100879_bib17","article-title":"Clinical application of noninvasive prenatal testing for sex chromosome aneuploidies in central China","volume":"8","author":"Zhao","year":"2021","journal-title":"Front Med (Lausanne)"},{"issue":"2","key":"10.1016\/j.gim.2023.100879_bib18","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1038\/ejhg.2010.148","article-title":"Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy","volume":"19","author":"Boyd","year":"2011","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"10.1016\/j.gim.2023.100879_bib19","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1093\/humrep\/dev192","article-title":"Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome","volume":"30","author":"Viuff","year":"2015","journal-title":"Hum Reprod"},{"issue":"5","key":"10.1016\/j.gim.2023.100879_bib20","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1654","article-title":"Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: a systematic review and meta-analysis of diagnostic test accuracy studies","volume":"9","author":"Soukkhaphone","year":"2021","journal-title":"Mol Genet Genomic Med"},{"issue":"2","key":"10.1016\/j.gim.2023.100879_bib21","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1002\/ajmg.c.31785","article-title":"Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies","volume":"184","author":"Thompson","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"9","key":"10.1016\/j.gim.2023.100879_bib22","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1016\/j.gim.2022.05.011","article-title":"Detection and characterization of male sex chromosome abnormalities in the UK Biobank study","volume":"24","author":"Zhao","year":"2022","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.gim.2023.100879_bib23","doi-asserted-by":"crossref","first-page":"79.e1","DOI":"10.1016\/j.ajog.2022.01.002","article-title":"Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome","volume":"227","author":"Dar","year":"2022","journal-title":"Am J Obstet Gynecol"},{"issue":"2","key":"10.1016\/j.gim.2023.100879_bib24","doi-asserted-by":"crossref","first-page":"259.e1","DOI":"10.1016\/j.ajog.2022.01.019","article-title":"Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation","volume":"227","author":"Dar","year":"2022","journal-title":"Am J Obstet Gynecol"},{"issue":"2 Pt 1","key":"10.1016\/j.gim.2023.100879_bib25","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1097\/AOG.0000000000000325","article-title":"Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis","volume":"124","author":"Levy","year":"2014","journal-title":"Obstet Gynecol"},{"issue":"9","key":"10.1016\/j.gim.2023.100879_bib26","first-page":"1311","article-title":"Quality assurance of non-invasive prenatal screening (NIPS) for fetal aneuploidy using positive predictive values as outcome measures","volume":"8","author":"DiNonno","year":"2019","journal-title":"J\u00a0Clin Med"},{"issue":"16","key":"10.1016\/j.gim.2023.100879_bib27","first-page":"11","article-title":"A\u00a0critical evaluation of validation and clinical experience studies in non-invasive prenatal testing for trisomies 21, 18, and 13 and monosomy X","author":"Demko","year":"2022","journal-title":"J\u00a0Clin Med"},{"issue":"3","key":"10.1016\/j.gim.2023.100879_bib28","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajogmf.2020.100152","article-title":"Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing","volume":"2","author":"Martin","year":"2020","journal-title":"Am J Obstet Gynecol MFM"},{"issue":"3","key":"10.1016\/j.gim.2023.100879_bib29","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"10.1016\/j.gim.2023.100879_bib30","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.fertnstert.2015.11.042","article-title":"Fertility preservation in Turner syndrome","volume":"105","author":"Grynberg","year":"2016","journal-title":"Fertil Steril"},{"issue":"4","key":"10.1016\/j.gim.2023.100879_bib31","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/j.jpeds.2013.05.037","article-title":"47,XYY syndrome: clinical phenotype and timing of ascertainment","volume":"163","author":"Bardsley","year":"2013","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.gim.2023.100879_bib32","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1824-7288-38-52","article-title":"Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior","volume":"38","author":"Lalatta","year":"2012","journal-title":"Ital J Pediatr"},{"issue":"3","key":"10.1016\/j.gim.2023.100879_bib33","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/andr.12208","article-title":"The Klinefelter syndrome: current management and research challenges","volume":"4","author":"Nieschlag","year":"2016","journal-title":"Andrology"},{"issue":"1","key":"10.1016\/j.gim.2023.100879_bib34","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/cge.13586","article-title":"A\u00a0review of neurocognitive functioning of children with sex chromosome trisomies: identifying targets for early intervention","volume":"97","author":"Urbanus","year":"2020","journal-title":"Clin Genet"},{"issue":"11","key":"10.1016\/j.gim.2023.100879_bib35","doi-asserted-by":"crossref","first-page":"2870","DOI":"10.1002\/ajmg.a.37688","article-title":"Expanding the phenotype of triple X syndrome: a comparison of prenatal versus postnatal diagnosis","volume":"170","author":"Wigby","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"4","key":"10.1016\/j.gim.2023.100879_bib36","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.sxmr.2018.02.008","article-title":"Klinefelter syndrome. The effects of early androgen therapy on competence and behavioral phenotype","volume":"6","author":"Flannigan","year":"2018","journal-title":"Sex Med Rev"},{"issue":"4","key":"10.1016\/j.gim.2023.100879_bib37","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/pd.5580","article-title":"Impact of early diagnosis and noninvasive prenatal testing (NIPT): knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)","volume":"40","author":"Samango-Sprouse","year":"2020","journal-title":"Prenat Diagn"},{"issue":"1","key":"10.1016\/j.gim.2023.100879_bib38","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\u00a0Perinatol"},{"issue":"5","key":"10.1016\/j.gim.2023.100879_bib39","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1097\/AOG.0000000000003791","article-title":"Fetal sex results of noninvasive prenatal testing and differences with ultrasonography","volume":"135","author":"Dhamankar","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"5","key":"10.1016\/j.gim.2023.100879_bib40","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1053\/j.semperi.2018.07.002","article-title":"What are the goals of prenatal genetic testing?","volume":"42","author":"Dukhovny","year":"2018","journal-title":"Semin Perinatol"},{"issue":"3","key":"10.1016\/j.gim.2023.100879_bib41","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1097\/AOG.0000000000000666","volume":"125","author":"Edwards","year":"2015","journal-title":"Obstet Gynecol"},{"issue":"4","key":"10.1016\/j.gim.2023.100879_bib42","first-page":"281","article-title":"Principles and practice of mass screening for disease","volume":"65","author":"Wilson","year":"1968","journal-title":"Bol Oficina Sanit Panam"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360023008924?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360023008924?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:57:00Z","timestamp":1761098220000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360023008924"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":42,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S1098360023008924"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2023.100879","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Performance of prenatal cfDNA screening for sex chromosomes","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2023.100879","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"100879"}}