{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:29:45Z","timestamp":1790044185923,"version":"4.0.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,4,10]],"date-time":"2018-04-10T00:00:00Z","timestamp":1523318400000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1105603"],"award-info":[{"award-number":["1105603"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1021252"],"award-info":[{"award-number":["1021252"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To investigate by means of a population\u2010based analysis of a cohort of women who underwent combined first\u2010trimester screening (CFTS), changes in uptake of invasive prenatal diagnosis according to risk of trisomy 21 (T21) on CFTS, and prevalence and methods for ascertainment of atypical chromosome abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a retrospective cohort study using state\u2010wide prenatal datasets from Victoria, Australia. A three\u2010step approach was taken to analyze the data: (1) linkage of records between serum screening and diagnostic results; (2) comparison of rates of diagnostic testing according to CFTS T21 risk result category in a 2014\u20132015 cohort with those of a historical 2002\u20132004 cohort; (3) detailed analysis of atypical abnormalities in the 2014\u20132015 group  according to CFTS T21 risk result, individual serum analyte level and other indications for invasive diagnostic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In 2014\u20132015, there were 100\u2009418 CFTS results issued for 146\u2009776 births (68.4%). The overall prevalence of atypical chromosome abnormalities in the entire CFTS cohort was 0.10% and was highest in those with CFTS T21 risk &gt;\u20091 in 10 (4.6%), or serum analyte levels &lt;\u20090.2 multiples of the median (MoM) (6.9% for pregnancy\u2010associated plasma protein\u2010A (PAPP\u2010A) and 5.2% for beta\u2010human chorionic gonadotropin (\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010hCG)). Almost half (49.2%) of women with PAPP\u2010A\u2009&lt;\u20090.2 MoM had a risk for T21 on CFTS of less than 1 in 100. The majority (55%) of atypical abnormalities occurred in women with CFTS T21 risk below 1 in 300, and were most commonly detected on ultrasound examination (47.1%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Concerns regarding missed diagnoses of atypical chromosome abnormalities when non\u2010invasive prenatal testing is offered after a result of high risk on CFTS can be mitigated if invasive diagnostic testing is offered to those women with CFTS T21 risk of &gt;\u20091 in 100, serum PAPP\u2010A or\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010hCG\u2009&lt;\u20090.2 MoM, or ultrasound\u2010detected abnormality. This has implications for contingent models of screening. Copyright \u00a9 2017 ISUOG. Published by John Wiley &amp; Sons Ltd.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.18979","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T04:12:56Z","timestamp":1512965576000},"page":"487-492","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Prenatal diagnostic testing and atypical chromosome abnormalities following combined first\u2010trimester screening: implications for contingent models of non\u2010invasive prenatal testing"],"prefix":"10.1002","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8662-5188","authenticated-orcid":false,"given":"A.","family":"Lindquist","sequence":"first","affiliation":[{"name":"Public Health Genetics Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Mercy Perinatal Mercy Hospital for Women  Melbourne Australia"},{"name":"Department of Obstetrics and Gynaecology University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Poulton","sequence":"additional","affiliation":[{"name":"Public Health Genetics Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Halliday","sequence":"additional","affiliation":[{"name":"Public Health Genetics Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Hui","sequence":"additional","affiliation":[{"name":"Public Health Genetics Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Mercy Perinatal Mercy Hospital for Women  Melbourne Australia"},{"name":"Department of Obstetrics and Gynaecology University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4945"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajo.12269"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14795"},{"key":"e_1_2_7_5_1","first-page":"2011","article-title":"Prenatal detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis","author":"International Society for Prenatal Diagnosis (ISPD)","year":"2011","journal-title":"ISPD: Charlottesville, VA, USA"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.97"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14692"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14683"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0093559"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajo.12385"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181d5d022"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13270"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.06.038"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.55"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajo.12380"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4601"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4666"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.13488"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2509"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.04.029"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4640"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aan1240"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.02.030"},{"key":"e_1_2_7_26_1","unstructured":"Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RAaNZCoOa). 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