{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T23:26:20Z","timestamp":1787181980198,"version":"build-2736575974"},"reference-count":39,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T00:00:00Z","timestamp":1773792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T00:00:00Z","timestamp":1773792000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"National High-Level Hospital Clinical Research Funding","award":["2022-PUMCH-B-076"],"award-info":[{"award-number":["2022-PUMCH-B-076"]}]},{"name":"National Key Clinical 387 Specialty Construction Project","award":["U114000"],"award-info":[{"award-number":["U114000"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Med Screen"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To evaluate the efficacy of non-invasive prenatal testing in detecting sex chromosome aneuploidies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 67,099 pregnant women were recruited in this retrospective observational study at Peking Union Medical College Hospital; 300 cases at high risk of sex chromosome aneuploidies were screened and 36 cases refused invasive prenatal diagnosis after detailed prenatal genetic counselling. The clinical data and prenatal diagnosis results were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>101 cases were in accordance with non-invasive prenatal testing results after invasive prenatal diagnosis: 95 cases had follow-up confirmation with abnormal sex aneuploidies (14 for monosomy X; 36 for 47, XXY; 22 for trisomy X and 23 for 47, XYY). The total positive predictive value was 38.26% (101\/264). The accuracy of different Z scores was calculated, respectively, with positive predictive value ranging from 33.96% to 41.38% and a decreased sensitivity with rise of the Z score.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Non-invasive prenatal testing is an effective screening method for sex chromosome trisomy, rather than monosomy X, with relatively high accuracy. Z score\u2009=\u20093 is an optimum risk threshold in sex chromosome aneuploidies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/09691413261432441","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T08:57:42Z","timestamp":1773824262000},"page":"131-137","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis"],"prefix":"10.1177","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8458-365X","authenticated-orcid":false,"given":"Yiqing","family":"Yu","sequence":"first","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5180-922X","authenticated-orcid":false,"given":"Yan","family":"L\u00fc","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7738-962X","authenticated-orcid":false,"given":"Xiya","family":"Zhou","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6630-9989","authenticated-orcid":false,"given":"Yulin","family":"Jiang","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7731-0929","authenticated-orcid":false,"given":"Na","family":"Hao","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8537-9694","authenticated-orcid":false,"given":"Mengmeng","family":"Li","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8048-5965","authenticated-orcid":false,"given":"Xueting","family":"Yang","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9978-7031","authenticated-orcid":false,"given":"Juntao","family":"Liu","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6072-982X","authenticated-orcid":false,"given":"Qingwei","family":"Qi","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,3,18]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100874"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.07.002"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6357"},{"key":"e_1_3_3_6_2","unstructured":"Commission GOotNHaFP. Technical Specifications for Prenatal Screening and Diagnosis of Fetal Free DNA in Peripheral Blood of Pregnant Women. https:\/\/www.nhc.gov.cn\/wjw\/c100175\/201611\/84020257c9944790ba644c276cc71455.shtml (2016 accessed 26 February 2026)."},{"key":"e_1_3_3_7_2","first-page":"1155","article-title":"Expert consensus on the clinical application strategy of NIPT2.0, a new-generation non-invasive prenatal screening technology","volume":"41","author":"Reproductive Health Branch Of China Maternal and Child Health Association","year":"2024","unstructured":"Reproductive Health Branch Of China Maternal and Child Health Association, Xu C, Yin C, et al. Expert consensus on the clinical application strategy of NIPT2.0, a new-generation non-invasive prenatal screening technology. Chin J Med Genet 2024; 41: 1155\u20131163. Chinese.","journal-title":"Chin J Med Genet"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4033"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.215145"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000637"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.03.042"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-5-57"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4127"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2011.635730"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6298"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.91"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182368a0e"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu419"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2014.09.032"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep38359"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4160"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-018-0397-x"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2023.117758"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1177\/0300060517695008"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-020-0478-5"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040478"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.3390\/jpm12010048"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-44018-4"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.11.041"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.02.030"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0467-4"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-01131-6"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5053"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm3030809"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aan1240"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1159\/000098184"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1159\/000357198"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41421-022-00457-4"},{"key":"e_1_3_3_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-023-02774-x"},{"key":"e_1_3_3_40_2","first-page":"321","article-title":"Health economic evaluation of prenatal screening and prenatal diagnosis strategy for fetal chromosomal aneuploidy in women with advanced maternal age","volume":"10","author":"Lyu Y","year":"2022","unstructured":"Lyu Y, Qi Q, Jiang Y, et al. Health economic evaluation of prenatal screening and prenatal diagnosis strategy for fetal chromosomal aneuploidy in women with advanced maternal age. J Dev Med (Electronic Version) 2022; 10: 321\u2013329. Chinese.","journal-title":"J Dev Med (Electronic Version)"}],"container-title":["Journal of Medical Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/09691413261432441","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/09691413261432441","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/09691413261432441","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T23:16:29Z","timestamp":1787181389000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/09691413261432441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,18]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1177\/09691413261432441"],"URL":"https:\/\/doi.org\/10.1177\/09691413261432441","relation":{},"ISSN":["0969-1413","1475-5793"],"issn-type":[{"value":"0969-1413","type":"print"},{"value":"1475-5793","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,18]]}}}