{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T07:28:46Z","timestamp":1792308526915,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T00:00:00Z","timestamp":1674777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aimed to evaluate the performance of noninvasive prenatal testing (NIPT) for detecting three common trisomies (T21, T18, and T13) in pregnant women with diverse clinical indications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Frequencies of NIPT, of high chance of having one of the three trisomies, and of confirmed trisomies were determined for women with each of seven clinical indications in a national cross\u2010sectional survey of approximately 300 prenatal diagnosis centers. Data were collected for the period from October 1, 2016 to September 30, 2018 using the Prenatal Diagnosis Technology Management On\u2010line Information System. The performance of NIPT for detecting the three trisomies in pregnant women with different clinical indications was assessed in terms of sensitivity, specificity, positive predictive value (PPV), negative predictive value, and the corresponding 95% confidence intervals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 5766 true positive cases for T21, T18, and T13 were detected among 1,854,148 samples, giving an overall detection rate of 0.31% (95% CI: 0.30%\u20130.32%). Most positive cases were associated with \u201cNT thickening\u201d (1.18%) and \u201cadvanced maternal age\u201d (0.51%). The detection sensitivities of NIPT were 99.60% for T21, 99.14% for T18, and 100% for T13, while the corresponding specificities were 99.90%, 99.94%, and 99.95%. The corresponding PPVs were 69.77%, 47.24%, and 22.36%. NIPT showed high sensitivity and specificity, regardless of clinical indication. In contrast, PPV for three trisomies varied widely between 9.09% and 66.46% depending on the clinical indication. Across seven clinical indications, PPV ranged from 50.62% to 73.09% for T21, 20.00%\u201358.33% for T18, and 4.17%\u201347.37% for T13. The highest PPVs were 73.09% for T21 in pregnancies involving \u201cadvanced maternal age\u201d, 58.33% for T18 in pregnancies with \u201cNT thickening\u201d, and 47.37% for T13 in pregnancies with \u201cNT thickening\u201d.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>NIPT shows high sensitivity and specificity for detecting T21, T18, and T13 in pregnant women with different clinical indications. However, PPV depends strongly on clinical indication, highlighting the need to strengthen education and genetic counseling about prenatal screening.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6312","type":"journal-article","created":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T02:48:17Z","timestamp":1673664497000},"page":"1036-1043","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Non\u2010invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: A multicenter observational study of 1,854,148 women in China"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7323-5535","authenticated-orcid":false,"given":"Liangcheng","family":"Xiang","sequence":"first","affiliation":[{"name":"National Office for Maternal and Child Health Surveillance of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9666-8010","authenticated-orcid":false,"given":"Jun","family":"Zhu","sequence":"additional","affiliation":[{"name":"National Center for Birth Defect Monitoring of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kui","family":"Deng","sequence":"additional","affiliation":[{"name":"National Office for Maternal and Child Health Surveillance of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Li","sequence":"additional","affiliation":[{"name":"National Office for Maternal and Child Health Surveillance of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3512-7645","authenticated-orcid":false,"given":"Jing","family":"Tao","sequence":"additional","affiliation":[{"name":"National Office for Maternal and Child Health Surveillance of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingrong","family":"Li","sequence":"additional","affiliation":[{"name":"National Office for Maternal and Child Health Surveillance of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanping","family":"Wang","sequence":"additional","affiliation":[{"name":"National Center for Birth Defect Monitoring of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuelian","family":"Yuan","sequence":"additional","affiliation":[{"name":"National Office for Maternal and Child Health Surveillance of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongna","family":"Yao","sequence":"additional","affiliation":[{"name":"National Center for Birth Defect Monitoring of China West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0336-7302","authenticated-orcid":false,"given":"Xiaohong","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu Sichuan China"},{"name":"Sichuan Birth Defects Clinical Research Center West China Second University Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3008704"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1311037"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4033"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1407349"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004107"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4608"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1408408"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14792"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.215145"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2013.03.027"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.3"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmra1705345"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102015\u2010010002"},{"key":"e_1_2_9_15_1","unstructured":"National Health Commission of the People's Republic of China.Technical Specification for Prenatal Screening and Diagnosis of Fetal Free DNA in Maternal Peripheral Blood 2016. Accessed June 25 2022.http:\/\/www.nhc.gov.cn\/fys\/s3581\/201611\/0e6fe5bac1664ebda8bc28ad0ed68389.shtml"},{"key":"e_1_2_9_16_1","unstructured":"National Health Commission of the People's Republic of China.The Statistical Bulletin of China\u2019s Health Development. Accessed November 29 2022.http:\/\/www.nhc.gov.cn\/guihuaxxs\/s10748\/202006\/ebfe31f24cc145b198dd730603ec4442.shtml"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.m3930"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20416"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00624"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0000000000000363"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17484"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.14050"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5053"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.c7401"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2010.12.060"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e3182368a0e"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.01.029"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.005"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246\u2010020\u201000268\u20102"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404\u2010008\u20100774\u20105"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.97"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmt001"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6312","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6312","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T08:29:11Z","timestamp":1692347351000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,27]]},"references-count":31,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/pd.6312"],"URL":"https:\/\/doi.org\/10.1002\/pd.6312","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,27]]},"assertion":[{"value":"2022-06-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}