{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T01:01:21Z","timestamp":1782867681250,"version":"3.54.5"},"reference-count":53,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,2,3]],"date-time":"2016-02-03T00:00:00Z","timestamp":1454457600000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left\u2010sided congenital heart defects (CHDs), and analyse genetic content.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Between 2003 and 2012, 200 fetuses were identified with left\u2010sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and\/or extra\u2010cardiac malformations (<jats:italic>n<\/jats:italic>\u2009=\u200964). We included cases with additional minor anomalies (<jats:italic>n<\/jats:italic>\u2009=\u200939), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 18 of the 54 isolated left\u2010sided CHDs we found 28 rare CNVs (prevalence 33%, average 1.6 CNV per person, size 10.6\u2009kb\u20132.2\u2009Mb). Our interpretation yielded clinically significant CNVs in two of 54 cases (4%) and variants of unknown significance in three other cases (6%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In left\u2010sided CHDs that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left\u2010sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra\u2010cardiac malformations and chromosomal abnormalities influence the treatment plan and prognosis. \u00a9 2015 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4767","type":"journal-article","created":{"date-parts":[[2015,12,30]],"date-time":"2015-12-30T20:22:39Z","timestamp":1451506959000},"page":"177-185","source":"Crossref","is-referenced-by-count":11,"title":["Chromosomal abnormalities and copy number variations in fetal left\u2010sided congenital heart defects"],"prefix":"10.1002","volume":"36","author":[{"given":"Fenna A. R.","family":"Jansen","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Fetal Medicine Leiden University Medical Center  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariette J. V.","family":"Hoffer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine L.","family":"van Velzen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics VU University Medical Center  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephani Klingeman","family":"Plati","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marry E. B.","family":"Rijlaarsdam","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology of the Willem Alexander Children's Hospital Leiden University Medical Center  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally\u2010Ann B.","family":"Clur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology of the Emma Children's Hospital Academic Medical Center  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nico A.","family":"Blom","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology of the Willem Alexander Children's Hospital Leiden University Medical Center  Leiden the Netherlands"},{"name":"Department of Pediatric Cardiology of the Emma Children's Hospital Academic Medical Center  Amsterdam the 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