{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T21:56:22Z","timestamp":1783547782520,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,2]],"date-time":"2014-04-02T00:00:00Z","timestamp":1396396800000},"content-version":"vor","delay-in-days":1,"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":[[2014,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p><jats:italic>To evaluate the usefulness of array\u2010based comparative genomic hybridization (<jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content>) for prenatal genetic diagnosis of congenital heart disease (<jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content>), with and without associated anomalies, and to explore the relationship between submicroscopic chromosomal aberrations and <jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:italic>In this prospective study we investigated 76 consecutive singleton fetuses with abnormal cardiac ultrasound findings, normal karyotype and negative or no fluorescence<\/jats:italic> in\u2010situ <jats:italic>hybridization results for 22q11.2 deletion syndrome. All pregnancies underwent <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> in a comprehensive search for chromosomal aberrations. The relationship between copy number variations (<jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content>) and <jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content> was determined by comparing clinical findings to chromosomal databases<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> that were benign or had no clinical significance were detected in 18\/76 (23.7%) cases. <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> of unknown clinical significance (i.e. <jats:styled-content style=\"fixed-case\">VOUS<\/jats:styled-content>) were detected in 4\/76 (5.3%) cases. Pathogenic <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> were detected in 5\/76 (6.6%) cases. Fetuses with <jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content> and additional structural abnormalities demonstrated no difference in number of pathogenic <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> when compared with fetuses with isolated <jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content> (7.4% (<\/jats:italic>n\u2009=\u2009<jats:italic>2\/27)<\/jats:italic> vs <jats:italic>6.1% (<\/jats:italic>n\u2009=\u2009<jats:italic>3\/49)<\/jats:italic>, P\u2009&gt;\u2009<jats:italic>0.05)<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>In this study cohort, <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> analysis significantly improved the detection of submicroscopic chromosomal aberrations in pregnancies with <jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content>, as compared with conventional cytogenetics. Our results suggest that <jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content> can provide additional genetic information in fetuses with abnormal heart findings. Copyright \u00a9 2013 ISUOG. Published by John Wiley &amp; Sons Ltd<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.13236","type":"journal-article","created":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T17:43:24Z","timestamp":1382723004000},"page":"404-412","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Detection of submicroscopic chromosomal aberrations by array\u2010based comparative genomic hybridization in fetuses with congenital heart disease"],"prefix":"10.1002","volume":"43","author":[{"given":"Y.","family":"Yan","sequence":"first","affiliation":[{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Zhang","sequence":"additional","affiliation":[{"name":"BioChain (Beijing) Science &amp; Technology Inc. Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Dan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing P.R. 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ultrasound Chinese PLA General Hospital (No. 301 Hospital) Beijing P.R. 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