{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:16:53Z","timestamp":1773278213809,"version":"3.50.1"},"reference-count":42,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,19]],"date-time":"2021-12-19T00:00:00Z","timestamp":1639872000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital heart defects (CHDs) appear in 8\u201310 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3\u20135 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.<\/jats:p>","DOI":"10.3390\/genes12122021","type":"journal-article","created":{"date-parts":[[2021,12,19]],"date-time":"2021-12-19T20:37:27Z","timestamp":1639946247000},"page":"2021","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9867-063X","authenticated-orcid":false,"given":"Katarzyna","family":"Kowalczyk","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Bartnik-G\u0142aska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Smyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabela","family":"Plaskota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9892-580X","authenticated-orcid":false,"given":"Joanna","family":"Bernaciak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"K\u0119dzior","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6533-3090","authenticated-orcid":false,"given":"Barbara","family":"Wi\u015bniowiecka-Kowalnik","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krystyna","family":"Jakub\u00f3w-Durska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Braun-Walicka","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artur","family":"Barczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6484-8751","authenticated-orcid":false,"given":"Maciej","family":"Geremek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Casta\u00f1eda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5295-7363","authenticated-orcid":false,"given":"Anna","family":"Kutkowska-Ka\u017amierczak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"W\u0142asienko","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5695-889X","authenticated-orcid":false,"given":"Marzena","family":"D\u0119bska","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology Medical University of Warsaw, Plac Starynkiewicza 1\/3, 02-015 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kuci\u0144ska-Chahwan","sequence":"additional","affiliation":[{"name":"Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Roszkowski","sequence":"additional","affiliation":[{"name":"Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5492-0676","authenticated-orcid":false,"given":"Szymon","family":"Koz\u0142owski","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyana","family":"Mikulska","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3647-3550","authenticated-orcid":false,"given":"Tadeusz","family":"Issat","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Obersztyn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata Anna","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/pd.5249","article-title":"Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease","volume":"38","author":"Xia","year":"2018","journal-title":"Prenat. 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