{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:36:45Z","timestamp":1790948205842,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the underlying causes of false positives in NIPT of fetal sex chromosomal aneuploidies using fetal cell\u2010free DNA from maternal plasma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study, we focus on a cohort of 23,984 pregnancy cases with NIPT. Karyotyping and FISH analysis were employed to verify the NIPT detected false\u2010positive results of fetal sex chromosomal aneuploidies, and a comparative CNV sequencing on positive and negative NIPT cases was uniquely performed to elucidate the underlying causes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 166 cases (0.69%) were identified as fetal sex chromosomal abnormalities, while 84 cases were found to be false\u2010positive results possibly associated with maternal X chromosomal aneuploidies (<jats:italic>n<\/jats:italic>\u00a0=\u00a08), maternal X chromosomal structural abnormalities (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), maternal CNVs (<jats:italic>n<\/jats:italic>\u00a0=\u00a04) as well as known placental mosaicism (<jats:italic>n<\/jats:italic>\u00a0=\u00a01). Furthermore, our study showed that the maternal chromosome CNV between 1\u20131.6\u00a0Mb was associated with false\u2010positive NIPT results in sex chromosomal abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our research demonstrated the spectrum of factors causing false positives in NIPT of fetal sex chromosomal abnormalities based on a large cohort. The effective maternal CNV size cut\u2010off identified in our study could integrate into bioinformatics algorithms for reducing the false\u2010positive rate, however, further investigation is necessary to confirm this.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1963","type":"journal-article","created":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T09:04:28Z","timestamp":1652173468000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Systematic analysis of the causes of <scp>NIPS<\/scp> sex chromosome aneuploidy false\u2010positive results"],"prefix":"10.1002","volume":"10","author":[{"given":"Zhaoru","family":"Lyu","sequence":"first","affiliation":[{"name":"Queen Mary College Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0950-5158","authenticated-orcid":false,"given":"Chunhong","family":"Huang","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2017.09.001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0503335102"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.421"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/263253"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.26"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246\u2010019\u20100198\u20102"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010018\u20100410\u20106"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000479460"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3362"},{"issue":"7","key":"e_1_2_10_11_1","first-page":"582","article-title":"Clinical features and Y chromosomal abnormalities in patients with karyotype chimerism of 45,XO\/46,XY","volume":"30","author":"Mao J.","year":"2014","journal-title":"Chinese Journal of Endocrinology and Metabolism"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0171319"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.146290"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4773"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.03.042"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14664"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5339"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1408408"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4160"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2018.03.007"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2013.11.014"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.76"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.02.014"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001091"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep16106"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300060517695008"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5529"}],"container-title":["Molecular Genetics &amp; 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