{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T15:55:21Z","timestamp":1792252521101,"version":"4.4.0"},"reference-count":46,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T00:00:00Z","timestamp":1362355200000},"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":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray\u2010based analysis (<jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content>) in the study of such pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (<jats:italic>n<\/jats:italic>\u2009=\u2009276). Second, <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced <jats:italic>de novo<\/jats:italic> chromosomal rearrangement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5\/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content>, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1\/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced <jats:italic>de novo<\/jats:italic> chromosomal rearrangement, <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> revealed that the rearrangement was not truly balanced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> is used as a complementary tool to conventional cytogenetics. Our results suggest that <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> could be a good alternative to karyotyping in these pregnancies. Copyright \u00a9 2012 ISUOG. Published by John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.12372","type":"journal-article","created":{"date-parts":[[2012,12,11]],"date-time":"2012-12-11T14:42:12Z","timestamp":1355236932000},"page":"375-382","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray\u2010based analysis"],"prefix":"10.1002","volume":"41","author":[{"given":"I.","family":"Mademont\u2010Soler","sequence":"first","affiliation":[{"name":"Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Morales","sequence":"additional","affiliation":[{"name":"Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic  Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Soler","sequence":"additional","affiliation":[{"name":"Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic  Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER)  Barcelona Spain"},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M.","family":"Mart\u00cdnez\u2010Crespo","sequence":"additional","affiliation":[{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Spain"},{"name":"Servei de Medicina Materno\u2010Fetal Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Children's Hospital Boston  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Margarit","sequence":"additional","affiliation":[{"name":"Servei de Bioqu\u00edmica i Gen\u00e8tica Molecular Hospital Cl\u00ednic  Barcelona Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER)  Barcelona Spain"},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona 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