{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:56:53Z","timestamp":1786978613442,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,2,10]],"date-time":"2014-02-10T00:00:00Z","timestamp":1391990400000},"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":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      <jats:italic>\n                        To review the performance of non\u2010invasive prenatal testing (\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        ) by low\u2010coverage whole\u2010genome sequencing of maternal plasma\n                        <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                        at a single center\n                      <\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>\n                        The\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        result and pregnancy outcome of 1982 consecutive cases were reviewed.\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        was based on low coverage (0.1\u00d7) whole\u2010genome sequencing of maternal plasma\n                        <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                        . All subjects were contacted for pregnancy and fetal outcome\n                      <\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>\n                        Of the 1982\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        tests, a repeat blood sample was required in 23 (1.16%). In one case, a conclusive report could not be issued, probably because of an abnormal vanished twin fetus.\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        was positive for common trisomies in 29 cases (23 were trisomy 21, four were trisomy 18 and two were trisomy 13); all were confirmed by prenatal karyotyping (specificity\u2009=\u2009100%). In addition, 11 cases were positive for sex\u2010chromosomal abnormalities (\n                        <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>\n                        ), and nine cases were positive for other aneuploidies or deletion\/duplication. Fourteen of these 20 subjects agreed to undergo further investigations, and the abnormality was found to be of fetal origin in seven, confined placental mosaicism (\n                        <jats:styled-content style=\"fixed-case\">CPM<\/jats:styled-content>\n                        ) in four, of maternal origin in two and not confirmed in one. Overall, 85.7% of the\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        \u2010suspected\n                        <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>\n                        were of fetal origin, and 66.7% of the other abnormalities were caused by\n                        <jats:styled-content style=\"fixed-case\">CPM<\/jats:styled-content>\n                        . Two of the six cases suspected or confirmed to have\n                        <jats:styled-content style=\"fixed-case\">CPM<\/jats:styled-content>\n                        were complicated by early\u2010onset growth restriction requiring delivery before 34\u2009weeks. Fetal outcome of the\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        \u2010negative cases was ascertained in 1645 (85.15%). Three chromosomal abnormalities were not detected by\n                        <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>\n                        , including one case each of a balanced translocation, unbalanced translocation and triploidy. There were no known false negatives involving the common trisomies (sensitivity\u2009=\u2009100%)\n                      <\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>\n                        Low\u2010coverage whole\u2010genome sequencing of maternal plasma\n                        <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                        was highly accurate in detecting common trisomies. It also enabled the detection of other aneuploidies and structural chromosomal abnormalities with high positive predictive value. Copyright \u00a9 2013 ISUOG. Published by John Wiley &amp; Sons Ltd\n                      <\/jats:italic>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.13277","type":"journal-article","created":{"date-parts":[[2013,12,13]],"date-time":"2013-12-13T13:32:53Z","timestamp":1386941573000},"page":"254-264","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":145,"title":["Non\u2010invasive prenatal testing for fetal chromosomal abnormalities by low\u2010coverage whole\u2010genome sequencing of maternal plasma\n                    <scp>DNA<\/scp>\n                    : review of 1982 consecutive cases in a single center"],"prefix":"10.1002","volume":"43","author":[{"given":"T. K.","family":"Lau","sequence":"first","affiliation":[{"name":"Fetal Medicine Centre Paramount Medical Centre Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. W.","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. S. S.","family":"Lo","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Paramount Medical Centre Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. N.","family":"Pursley","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. K.","family":"Chan","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of BGI Health Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Jiang","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of BGI Health Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of BGI Health Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Wang","sequence":"additional","affiliation":[{"name":"Clinical Laboratory of BGI Health Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. F. J.","family":"Jong","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Paramount Medical Centre Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. K. C.","family":"Yuen","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Paramount Medical Centre Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Y. C.","family":"Chan","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Paramount Medical Centre Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. S. K.","family":"Chan","sequence":"additional","affiliation":[{"name":"Fetal Medicine Centre Paramount Medical Centre Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. W.","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong Hong Kong China"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.03.090"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth1156"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0810641105"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0808319105"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12513"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4002"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.73"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4127"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-5-57"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4110"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2012.678442"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2012.733768"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8988"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4076"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4123"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3993"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4033"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12504"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12436"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e31824fb482"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201956"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2006.25.6.711"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2012.712569"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822e57a7"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015784"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31389"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2012.08.021"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.006"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12360"}],"container-title":["Ultrasound in Obstetrics &amp; Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.13277","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.13277","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T14:50:46Z","timestamp":1696517446000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/uog.13277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,10]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/uog.13277"],"URL":"https:\/\/doi.org\/10.1002\/uog.13277","archive":["Portico"],"relation":{},"ISSN":["0960-7692","1469-0705"],"issn-type":[{"value":"0960-7692","type":"print"},{"value":"1469-0705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,10]]},"assertion":[{"value":"2013-11-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-02-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}