Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

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dc.authoridKalkan, Rasime/0000-0002-6095-7352
dc.authoridatli, emine ikbal/0000-0001-9003-1449;
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidKalkan, Rasime/X-4808-2019
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidOZEN, YASEMİN/AEW-9427-2022
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorDemir, Selma
dc.contributor.authorKalkan, Rasime
dc.contributor.authorAkurut, Cisem
dc.contributor.authorOzen, Yasemin
dc.date.accessioned2024-06-12T10:56:13Z
dc.date.available2024-06-12T10:56:13Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractThe prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9Mb) deletion, and 8p22p12 (16.8Mb) deletion. Our study highlights the importance of genetic testing in CHD.en_US
dc.identifier.doi10.1055/s-0041-1736566
dc.identifier.endpage33en_US
dc.identifier.issn2699-9404
dc.identifier.issue1en_US
dc.identifier.pmid35169781en_US
dc.identifier.startpage29en_US
dc.identifier.urihttps://doi.org/10.1055/s-0041-1736566
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19692
dc.identifier.volume9en_US
dc.identifier.wosWOS:000716106700003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherThieme Medical Publ Incen_US
dc.relation.ispartofGlobal Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCHDen_US
dc.subjectAcghen_US
dc.subjectGenetic Testingen_US
dc.subjectCongenital Heart Diseaseen_US
dc.subjectTerminal Deletion Disorderen_US
dc.subjectDefectsen_US
dc.subjectDiagnosisen_US
dc.subjectAbnormalitiesen_US
dc.subjectPrevalenceen_US
dc.subjectAneuploidyen_US
dc.subjectStatementen_US
dc.subjectReceptoren_US
dc.subjectRegionen_US
dc.subjectEts-1en_US
dc.titleInvestigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Perioden_US
dc.typeArticleen_US

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