Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study.

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2026-05-27 DOI:10.1186/s13039-026-00768-1

Anh Huu Duc Nguyen, Phan Duc Tran, Phuc Hong Dinh, Trang Thi Dao, Ngoc Thi Minh Nguyen, Anh Thi Lan Luong, Lan Thi Ngoc Hoang, Phuong Thi Kim Doan, Hung Trong Mai, Linh Thuy Dinh, Vuong The Pham, Giang Thi Thu Phan, Thang Duc Bui, Linh Thuy Tran, Cuong Danh Tran

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引用次数: 0

Abstract

Background: This study aimed to analyze chromosomal characteristics and copy number variations (CNVs) in fetuses with ventriculomegaly (VM), thereby comparing genetic features between the isolated VM group and the non-isolated VM. Simultaneously evaluate the efficacy of karyotyping and CNV analysis in prenatal diagnosis of fetuses with VM.

Methods: This retrospective cross-sectional study included 78 fetuses diagnosed with VM at the Prenatal Diagnosis Center, National Hospital of Obstetrics and Gynecology, the Clinical Genetics Center, Hanoi Medical University Hospital, and the Prenatal Diagnosis Center, Hanoi Obstetrics and Gynecology Hospital from January 2023 to December 2024. Genetic testing methods included conventional karyotyping and CNV analysis.

Results: Chromosomal abnormalities were detected in 14.1% (11/78) of cases by karyotyping, while CNVs were identified in 17.9% (14/78). CNVs were significantly more frequent in the non-isolated VM group compared to the isolated group (29.4% vs. 9.1%, p = 0.02). Both methods concordantly detected six cases of aneuploidy. Three cases of microdeletions/duplications were detected by CNV analysis, while karyotyping revealed no abnormalities. An additional four cases with chromosomal structural abnormalities detected by karyotyping had their deletion/duplication segments precisely characterized for size and location through CNV analysis.

Conclusion: Genetic testing using amniotic fluid samples should be considered an essential component in the prenatal diagnostic approach to VM. Non-isolated VMs exhibit significantly higher CNV risk than isolated VMs. CNV analysis enhances diagnostic efficacy for genetic abnormalities compared to karyotyping, while simultaneously facilitating genetic variant classification, thereby providing more detailed information for prognostic assessment. The combined approach of karyotyping and CNV analysis improves the detection rate of genetic abnormalities, supporting enhanced genetic counseling and superior pregnancy management.

查看原文本刊更多论文

脑室肥大胎儿的染色体异常和拷贝数变异：一项多中心回顾性研究。

背景：本研究旨在分析脑室肥大（VM）胎儿的染色体特征和拷贝数变异（CNVs），从而比较分离的VM组和非分离的VM组的遗传特征。同时评价核型和CNV分析在VM胎儿产前诊断中的作用。方法：本回顾性横断面研究纳入2023年1月至2024年12月在国立妇产科医院产前诊断中心、河内医科大学医院临床遗传学中心和河内妇产科医院产前诊断中心诊断为VM的78例胎儿。基因检测方法包括常规核型和CNV分析。结果：染色体组型分析发现染色体异常的占14.1%(11/78)，发现CNVs的占17.9%（14/78）。非隔离VM组的CNVs明显高于隔离VM组（29.4% vs. 9.1%, p = 0.02）。两种方法一致检出6例非整倍体。CNV分析检测到3例微缺失/重复，核型分析未发现异常。另外4例染色体结构异常病例通过核型检测，通过CNV分析精确表征了其缺失/重复片段的大小和位置。结论：利用羊水样本进行基因检测应被认为是VM产前诊断方法的重要组成部分。非隔离虚拟机的CNV风险明显高于隔离虚拟机。与核型分析相比，CNV分析提高了对遗传异常的诊断效果，同时促进了遗传变异的分类，从而为预后评估提供了更详细的信息。核型分析和CNV分析相结合的方法提高了遗传异常的检出率，支持加强遗传咨询和更好的妊娠管理。

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.