Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

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 mut...

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Autores principales:	Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan
Formato:	article
Lenguaje:	EN
Publicado:	Georg Thieme Verlag KG 2021
Materias:	chd acgh genetic testing congenital heart disease Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/394510a10a014c37a951580b9a283724
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spelling	oai:doaj.org-article:394510a10a014c37a951580b9a2837242021-11-09T23:53:43ZInvestigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period2699-940410.1055/s-0041-1736566https://doaj.org/article/394510a10a014c37a951580b9a2837242021-11-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736566https://doaj.org/toc/2699-9404The 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.Emine Ikbal AtliEngin AtliSinem YalcintepeSelma DemirRasime KalkanCisem AkurutYasemin OzenHakan GurkanGeorg Thieme Verlag KGarticlechdacghgenetic testingcongenital heart diseaseGeneticsQH426-470Neoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENGlobal Medical Genetics (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	chd acgh genetic testing congenital heart disease Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	chd acgh genetic testing congenital heart disease Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Emine Ikbal Atli Engin Atli Sinem Yalcintepe Selma Demir Rasime Kalkan Cisem Akurut Yasemin Ozen Hakan Gurkan Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
description	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.
format	article
author	Emine Ikbal Atli Engin Atli Sinem Yalcintepe Selma Demir Rasime Kalkan Cisem Akurut Yasemin Ozen Hakan Gurkan
author_facet	Emine Ikbal Atli Engin Atli Sinem Yalcintepe Selma Demir Rasime Kalkan Cisem Akurut Yasemin Ozen Hakan Gurkan
author_sort	Emine Ikbal Atli
title	Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
title_short	Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
title_full	Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
title_fullStr	Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
title_full_unstemmed	Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
title_sort	investigation of genetic alterations in congenital heart diseases in prenatal period
publisher	Georg Thieme Verlag KG
publishDate	2021
url	https://doaj.org/article/394510a10a014c37a951580b9a283724
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Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

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