Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
Abstract: The 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 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period ; volume:09 ; number:01 ; year:2022 ; pages:029-033
Global medical genetics ; 09, Heft 01 (2022), 029-033
- Contributor
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Atli, Emine Ikbal
Atli, Engin
Yalcintepe, Sinem
Demir, Selma
Kalkan, Rasime
Akurut, Cisem
Ozen, Yasemin
Gurkan, Hakan
- DOI
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10.1055/s-0041-1736566
- URN
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urn:nbn:de:101:1-2022040509042055680783
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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22.08.2025, 3:12 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Atli, Emine Ikbal
- Atli, Engin
- Yalcintepe, Sinem
- Demir, Selma
- Kalkan, Rasime
- Akurut, Cisem
- Ozen, Yasemin
- Gurkan, Hakan
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