{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T01:11:32Z","timestamp":1782781892397,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,2]],"date-time":"2024-10-02T00:00:00Z","timestamp":1727827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2704700, 2022YFC2704703, 2018YFC1002900"],"award-info":[{"award-number":["2022YFC2704700, 2022YFC2704703, 2018YFC1002900"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFC2705904"],"award-info":[{"award-number":["2023YFC2705904"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Our objective was to evaluate the efficacy of expanded non\u2010invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high\u2010risk twin pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and Methods<\/jats:title><jats:p>A prospective, double\u2010blinded cohort study was conducted, enrolling 73 high\u2010risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes. The sensitivity, specificity, positive predictive value, and negative predictive value of expanded NIPT were calculated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The cohort included 24 monochorionic and 49 dichorionic twin pregnancies. The median cell\u2010free fetal DNA concentration in expanded NIPT was 16.7% (range 3.86%\u201349.1%), with a test failure rate of 1.4% (1\/73). High\u2010risk findings for trisomy 21\/13\/18 were identified in five cases (6.8%), Turner syndrome in one case (1.4%), and CNVs indicative of high risk for clinically significant microdeletion\/microduplication syndromes (MMS) in ten cases (13.7%). Of these, 56 cases (76.7%) tested NIPT negative, revealing one false\u2010negative for 45, X and five false\u2010negatives for CNVs. Expanded NIPT achieved a detection rate of 100% (5\/5) for trisomy 21\/13\/18 with a false\u2010positive rate of 0% (0\/5), a detection rate of 33.3% (1\/3) for sex chromosome abnormalities with a false\u2010positive rate of 0% (0\/3), and a detection rate of 66.7% (4\/6) for MMS with a false\u2010positive rate of 3.0% (2\/67). The positive predictive values for trisomy T21\/13\/18, sex chromosome abnormalities, and known MMS were 100% (5\/5), 100% (1\/1), and 66.7% (4\/6) in the expanded NIPT, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The expanded NIPT demonstrated high detection rates for common trisomies and moderate detection rates for prenatal MMS in high\u2010risk twin pregnancies. Further studies with large sample sizes in low\u2010risk populations are needed.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aogs.14958","type":"journal-article","created":{"date-parts":[[2024,10,2]],"date-time":"2024-10-02T10:41:23Z","timestamp":1727865683000},"page":"2426-2432","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The efficacy of expanded non\u2010invasive prenatal testing (<scp>NIPT<\/scp>) in a high\u2010risk twin pregnancies cohort"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3523-7685","authenticated-orcid":false,"given":"Meng","family":"Meng","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianping","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingjun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gang","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fenhe","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchun","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8467-0383","authenticated-orcid":false,"given":"Luming","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,2]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2020.108320"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5832"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-018-0246-4"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.15022"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20284"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2021.01.005"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-022-01041-0"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1232"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20416"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.03.019"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-023-05642-1"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-023-02881-1"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0089-4"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvab067"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2019.01.009"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2019.1647161"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.56"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.002"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5928"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-021-00551-4"}],"container-title":["Acta Obstetricia et Gynecologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aogs.14958","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T13:27:46Z","timestamp":1748352466000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/aogs.14958"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,2]]},"references-count":21,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/aogs.14958"],"URL":"https:\/\/doi.org\/10.1111\/aogs.14958","archive":["Portico"],"relation":{},"ISSN":["0001-6349","1600-0412"],"issn-type":[{"value":"0001-6349","type":"print"},{"value":"1600-0412","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,2]]},"assertion":[{"value":"2024-04-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}