Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period.

IF 1.2 Q4 GENETICS & HEREDITY

Global Medical Genetics Pub Date : 2021-11-09 eCollection Date: 2022-03-01 DOI:10.1055/s-0041-1736566

Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan

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引用次数: 2

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.

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先天性心脏病产前基因改变的研究。

先天性心脏病(CHD)的产前诊断是重要的，因为它有死亡风险。冠心病的发病各不相同，根据畸形类型的不同，发生非整倍体的风险也不同。为了确定冠心病可能的遗传改变，应计划进行g带、染色体微阵列或必要时的DNA突变分析和直接序列分析。在本研究中，对950个样本进行了阵列分析，以确定遗传改变、细胞培养、核型分析和单核苷酸多态性。对23例(2.4%，23/950)CHD胎儿进行了介入产前遗传学检查。23例中有5例(21.7%)检出染色体异常。检测到的染色体异常为10q23.2缺失、18三体、8p22.3-p23.2缺失、8q21.3-q24.3重复、11q24.2q24.5 (9 Mb)缺失、8p22p12 (16.8 Mb)缺失。我们的研究强调了基因检测在冠心病中的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Global Medical Genetics GENETICS & HEREDITY-

自引率

11.80%

发文量

审稿时长

14 weeks