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CC BY 4.0 · Glob Med Genet 2022; 09(01): 029-033
DOI: 10.1055/s-0041-1736566
Original Article

Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

Emine Ikbal Atli 
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Engin Atli
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Sinem Yalcintepe
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Selma Demir
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Rasime Kalkan
2   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Cisem Akurut
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Yasemin Ozen
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
,
Hakan Gurkan
1   Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey
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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.

Keywords

CHD - aCGH - genetic testing - congenital heart disease


Publication History

Received: 03 August 2021

Accepted: 09 September 2021

Article published online:
09 November 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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