{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T13:22:00Z","timestamp":1786972920647,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:00:00Z","timestamp":1604361600000},"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":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the association between prenatally detected isolated ventricular septum defects (VSDs) and chromosomal aberrations in a nationwide study in Denmark.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Nationwide, register\u2010based study with prospectively collected data including all singleton pregnancies from 2014\u20102018. From the Danish Fetal Medicine Database, we retrieved data on maternal characteristics, first\u2010trimester biomarkers, pre\u2010 and postnatal diagnoses, genetic test results, and pregnancy outcomes. VSDs were considered isolated in the absence of other malformations or soft markers, and with a low first\u2010trimester risk assessment for trisomies 21, 18 and 13. All cases of an isolated VSD with a chromosomal anomaly were audited. The genetic tests included karyotyping and chromosomal microarray.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We retrieved data on 292\u2009108 singleton pregnancies; 323 registered with a prenatally detected VSD and 697 with a VSD detected postnatally (incidence of 0.35%). Only 1\/153 (0.7%, 95% CI 0.02;3.6%) of the isolated prenatally detected VSDs had an abnormal genetic test result (del (8)(q23.1)). Moreover, they had a lower free \u03b2\u2010hCG MoM (0.9 MoM vs 0.99 MoM, <jats:italic>P<\/jats:italic> =\u20090.02), and were more likely born small for gestational age (SGA), defined as birthweight 2 or more SD below the mean, compared with the control population (5.2% vs 2.5%, <jats:italic>P<\/jats:italic> =\u20090.03).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We found a prevalence of chromosomal aberrations of 0.7% in fetuses with a prenatally detected isolated VSD. Moreover, we found an association between isolated VSDs and a larger proportion being born SGA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5853","type":"journal-article","created":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T14:21:50Z","timestamp":1603290110000},"page":"347-353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prenatally detected isolated ventricular septum defects and the association with chromosomal aberrations\u2014A nationwide register\u2010based study from Denmark"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7475-513X","authenticated-orcid":false,"given":"Cathrine","family":"Vedel","sequence":"first","affiliation":[{"name":"Center of Fetal Medicine and Pregnancy, Department of Obstetrics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Line","family":"Rode","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Copenhagen University Hospital Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Finn Stener","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"},{"name":"Fetal Medicine Unit, Department of Obstetrics and Gynecology Copenhagen University Hospital Hvidovre  Hvidovre Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olav Bj\u00f8rn","family":"Petersen","sequence":"additional","affiliation":[{"name":"Center of Fetal Medicine and Pregnancy, Department of Obstetrics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Sundberg","sequence":"additional","affiliation":[{"name":"Center of Fetal Medicine and Pregnancy, Department of Obstetrics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Tabor","sequence":"additional","affiliation":[{"name":"Center of Fetal Medicine and Pregnancy, Department of Obstetrics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte Kvist","family":"Ekelund","sequence":"additional","affiliation":[{"name":"Center of Fetal Medicine and Pregnancy, Department of Obstetrics Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01886-7"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2008.10.017"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyz009"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2000.00202.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.77.1.F41"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2716"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-018-0408-y"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4953"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30205"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-017-4518-2"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12527"},{"key":"e_1_2_9_13_1","article-title":"What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?","author":"Maya I","year":"2019","journal-title":"Acta Obstet Gynecol Scand"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2018.1449829"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.12581"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1996.tb14164.x"},{"key":"e_1_2_9_17_1","unstructured":"Astraia. 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