{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:52:36Z","timestamp":1786978356913,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,8,18]],"date-time":"2019-08-18T00:00:00Z","timestamp":1566086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100013058","name":"Jiangsu Provincial Key Research and Development Program","doi-asserted-by":"publisher","award":["BE2017650"],"award-info":[{"award-number":["BE2017650"]}],"id":[{"id":"10.13039\/501100013058","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":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false\u2010positive results of non\u2010invasive prenatal screening (NIPS) for predicting foetal SCAs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In total, 22 844 pregnant women were recruited to undergo NIPS. Pregnant women with high\u2010risk of SCAs underwent prenatal diagnosis and maternal copy number variation sequencing (CNV\u2010seq).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 117 women with high\u2010risk of SCAs, 72 accepted prenatal diagnosis, 86 accepted maternal CNV\u2010seq, and 21 had maternal sex chromosome abnormalities. The abnormality rate was significantly higher than women at low\u2010risk of SCAs (24.42% vs 3.51%). Using a novel parameter cffDNA (ChrX)\/cffDNA, when the ratio was greater than 2, all foetuses had normal karyotype, and 75.0% (6\/8) had abnormal maternal chromosome X. If the ratio was less than or equal to 2, only 10% (4\/40) of the mothers had chromosome X CNV alterations, while 33.3% (13\/40) of their foetuses had sex chromosomes CNV abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Approximately 25% of pregnant women with SCAs predicted by NIPS had sex chromosome abnormalities as determined by CNV\u2010seq. The ratio of cffDNA (ChrX)\/cffDNA can tentatively distinguish the maternal or foetal origin of abnormal cell\u2010free DNA. In a reanalysis of previous NIPS data, false\u2010positive results caused by maternal CNV might be elucidated.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.5529","type":"journal-article","created":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T10:48:53Z","timestamp":1563446933000},"page":"463-469","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["High false\u2010positive non\u2010invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?"],"prefix":"10.1002","volume":"40","author":[{"given":"Bin","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Center Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University  Changzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University  Changzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingping","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University  Changzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University  Changzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangxiu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Changzhou Maternity and Child Health Care Hospital affiliated to Nanjing Medical University  Changzhou 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