Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2024-05-13 DOI:10.1186/s13039-024-00681-5

Xuezhen Wang, Jing Sha, Yu Han, Min Pang, Min Liu, Mengna Liu, Bei Zhang, Jingfang Zhai

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引用次数: 0

Abstract

Background: Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinicians more confusions to interpret the detection results related to CHD with or without extracardiac abnormalities. Hence, we conducted this study to investigate the clinical value of CNV-seq in fetuses with CHD.

Results: A total of 167 patients with fetal CHD including 36 single CHD (sCHD), 41 compound CHD (cCHD) and 90 non-isolated CHD (niCHD) were recruited into the study. 28 cases (16.77%, 28/167) were revealed with chromosomal abnormalities at the level of karyotype. The pathogenic detection rate (DR) of CNV-seq (23.17%, 19/82) was higher than that of karyotyping (15.85%, 13/82) in 82 cases by CNV-seq and karyotyping simultaneously. The DR of pathogenic copy number variations (PCNVs) (31.43%) was higher in niCHD subgroup than that in sCHD and cCHD (9.52% and 23.08%). Conotruncal defect (CTD) was one of the most common heart malformations with the highest DR of PCNVs (50%) in 7 categories of CHD. In terms of all the pregnancy outcomes, 67 (40.12%) cases were terminated and 100 (59.88%) cases were live neonates. Only two among 34 cases with a pathogenic genetic result chose to continue the pregnancy.

Conclusions: CNV-seq combined with karyotyping is a reliable and accurate prenatal technique for identifying pathogenic chromosomal abnormalities associated with fetal CHD with or without extracardiac abnormalities, which can assist clinicians to perform detailed genetic counselling with regard to the etiology and related outcomes of CHD.

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对患有先天性心脏病的胎儿进行拷贝数变异测序和核型分析的效率以及以下结果。

背景：拷贝数变异测序（CNV-seq）和核型分析都是研究先天性心脏病（CHD）胎儿遗传病因的有力工具。然而，CNV-seq 给临床医生解释与心外畸形或无心外畸形的先天性心脏病相关的检测结果带来了更多困惑。因此，我们开展了这项研究，以探讨 CNV-seq 在先天性心脏病胎儿中的临床价值：本研究共招募了 167 例胎儿先天性心脏病患者，包括 36 例单发先天性心脏病（sCHD）、41 例复合先天性心脏病（cCHD）和 90 例非分离先天性心脏病（niCHD）。28例（16.77%，28/167）在核型水平上发现染色体异常。在同时进行 CNV-seq 和核型分析的 82 例病例中，CNV-seq 的致病性检出率（DR）（23.17%，19/82）高于核型分析（15.85%，13/82）。在 niCHD 亚组中，致病性拷贝数变异（PCNVs）的 DR 值（31.43%）高于 sCHD 和 cCHD（9.52% 和 23.08%）。脐带绕颈部缺损（CTD）是最常见的心脏畸形之一，其 PCNVs 在 7 类先天性心脏病中占比最高（50%）。在所有妊娠结局中，67 例（40.12%）终止妊娠，100 例（59.88%）为活产新生儿。在 34 例有致病基因结果的病例中，只有 2 例选择继续妊娠：CNV-seq结合核型分析是一种可靠而准确的产前技术，可用于鉴定与胎儿CHD相关的致病性染色体异常，无论是否伴有心外畸形，它都能帮助临床医生就CHD的病因和相关结果进行详细的遗传咨询。

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

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.