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使用染色体微阵列分析探索胎儿先天性心脏病中的副本数变异和候选基因

Di Yao^1,2, Ruyu Xia^1,2, Xu Jiang^1,2

¹Center of Prenatal Diagnosis, Wuxi Maternity and Child Health Care Hospital, Affiliated Women's Hospital of Jiangnan University, Wuxi, China.

Journal of perinatal medicine

|May 30, 2025

概括

具有心脏外异常的胎儿先天性心脏病 (CHD) 显示出显著更高的染色体形积分和副本数变异 (CNVs) 率. 母亲年龄与这些染色体异常在心血管疾病病例中没有联系.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
胎儿医学胎儿医学

背景情况:

先天性心脏病 (CHD) 是一种常见的出生缺陷.
了解CHD的遗传基础对于诊断和管理至关重要.
复制数变异 (CNVs) 越来越被认为是各种先天性异常的重要贡献者.

研究的目的:

调查副本数变异 (CNVs) 和胎儿先天性心脏病 (CHD) 的候选基因.
为了比较不同类型的冠状病毒在不同类型的冠状病的患病率.
确定导致孤立,复杂和心脏外异常的心脏病的遗传因素.

主要方法:

对391名被诊断患有心血管疾病的胎儿 (2019-2023) 的回顾性分析.
分类为孤立的CHD,复杂的CHD和心脏外异常的CHD.
在羊水样本上进行型化和染色体微阵列 (CMA) 分析;对特定群体进行基因本体学和KEGG通路分析.

主要成果:

在22%的冠状动脉疾病胎儿中检测到整体染色体异常 (7.2%的动脉化,6.1%的致病性冠状动脉病毒).
与单独或复杂的心脏病相比,患有心脏病和心脏外异常的胎儿显示出显著更高的动脉积分发育率 (23.7%) 和致病性冠状动脉病毒 (17.8%).
凯格分析揭示了复杂的冠状动脉疾病中的丰富途径,包括核细胞质运输和细胞粘附分子.

结论:

患有心脏外异常的心脏病例具有显著更高的染色体形积分和 CNV 异常负担.
在这些心血管疾病病例中,母亲的年龄不是与染色体异常相关的重要因素.
复杂性心脏病涉及复杂的分子路径,表明不同的遗传病因.

关键词:

染色体微阵列分析分析遗传性心脏病是一种先天性心脏病.副本号码的变化副本号的变化路径路径路径路径路径产前诊断产前诊断产前诊断

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