{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T09:58:54Z","timestamp":1783072734570,"version":"3.54.6"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,4]],"date-time":"2018-03-04T00:00:00Z","timestamp":1520121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008392","name":"Sundhed og Sygdom, Det Frie Forskningsr\u00e5d","doi-asserted-by":"publisher","award":["6110\u201000434B FSS"],"award-info":[{"award-number":["6110\u201000434B FSS"]}],"id":[{"id":"10.13039\/100008392","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:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the performance of high\u2010resolution chromosomal microarray (CMA) as the standard diagnostic approach for genomic imbalances in pregnancies with increased risk based on combined first\u2010trimester screening (cFTS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective study of genomic findings in a cohort of 575 consecutive pregnancies undergoing invasive testing because of a cFTS risk \u2265\u20091:300 on a publicly funded population\u2010based screening program in the Central and Northern Regions of Denmark, between September 2015 and September 2016. Women with fetal nuchal translucency thickness\u2009\u2265\u20093.5\u2009mm or opting for non\u2010invasive prenatal testing (NIPT) were excluded. Comparative genomic hybridization was performed using a 180\u2010K oligonucleotide array on DNA extracted directly from chorionic villus\/amniocentesis samples. Genomic outcomes were reported in relation to cFTS findings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 575 pregnancies that underwent invasive testing, CMA detected 22 (3.8% (95% CI, 2.5\u20135.7%)) cases of trisomies 21, 18 and 13, 14 (2.4% (95% CI, 1.4\u20134.0%)) cases of other types of aneuploidy and 15 (2.6% (95% CI, 1.5\u20134.3%)) cases with a pathogenic or probably pathogenic copy number variant (CNV). Of the 15 CNVs, three were &gt;\u200910\u2009Mb and would probably have been detected by chromosomal analysis, but the other 12 would most probably not have been detected using conventional cytogenetic techniques; therefore, the overall detection rate of CMA (8.9% (95% CI, 6.8\u201311.5%)) was significantly higher than that estimated for conventional cytogenetic analysis (6.8% (95% CI, 5.0\u20139.1%)) (<jats:italic>P<\/jats:italic>\u2009=\u20090.0049). Reducing the cFTS risk threshold for invasive diagnostic testing to 1 in 100 or 1 in 50 would have led, respectively, to 60% or 100% of the pathogenic CNVs being missed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>CMA is a valuable diagnostic technique that can identify an increased number of genomic aberrations in pregnancies at increased risk on cFTS. Limiting diagnostic testing to pregnancies with a risk above 1 in 100 or 1 in 50, as proposed in contingent NIPT\/invasive testing models, would lead to a significant proportion of pathogenic CNVs being missed at first\u2010trimester screening. Copyright \u00a9 2017 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.17548","type":"journal-article","created":{"date-parts":[[2017,6,13]],"date-time":"2017-06-13T05:32:41Z","timestamp":1497331961000},"page":"480-486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population\u2010based combined first\u2010trimester screening program"],"prefix":"10.1002","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-0393","authenticated-orcid":false,"given":"I.","family":"Vogel","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Prenatal Diagnostics Aarhus University Hospital  Aarhus Denmark"},{"name":"Institute of Biomedicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. B.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Center for Prenatal Diagnostics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Obstetrics and Gynecology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Institute of Biomedicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hyett","sequence":"additional","affiliation":[{"name":"Discipline of Obstetrics, Gynaecology and Neonatology University of Sydney  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lou","sequence":"additional","affiliation":[{"name":"Center for Prenatal Diagnostics Aarhus University Hospital  Aarhus Denmark"},{"name":"DEFACTUM Central Denmark Region  Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. M.","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Prenatal Diagnostics Aarhus University Hospital  Aarhus Denmark"},{"name":"Institute of Biomedicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,4]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"2004","volume-title":"In Retningslinjer for fosterdiagnostik\u00a0\u2013\u00a0pr\u00e6natal information, risikovurdering, r\u00e5dgivning og diagnostik","author":"Retningslinjer for fosterdiagnostik\u00a0\u2013\u00a0pr\u00e6natal information, risikovurdering, r\u00e5dgivning og diagnostik","year":"2004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.a2547"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/CLEP.S99477"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000362665"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.12146"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7754"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.193"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14726"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.164"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.254"},{"key":"e_1_2_6_15_1","unstructured":"SFOG Guidelines2016.Analysis of foetal DNA in the woman's blood: non\u2010invasive prenatal testing (NIPT) for trisomy 13 18 and 21. 2016."},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3943"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22742"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3945"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.253"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000423819.85283.f4"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4139"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-012-9545-3"},{"key":"e_1_2_6_23_1","unstructured":"2015 Royal College of Pathologists London C Gardiner D Wellesley MD Kilby B Kerr Joint Committee on Genomics in Medicine Recommendations for the use of chromosome microarray in pregnancy"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4772"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14745"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4979"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1080\/13648470.2015.1087966"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-016-1114-6"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(96)70312-5"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181cc75d0"},{"key":"e_1_2_6_31_1","first-page":"917","article-title":"Best RG, Howard\u2010Peebles PN, Langlois S, Kalousek DK. 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