Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Frontiers in Genetics Pub Date : 2025-06-25 eCollection Date: 2025-01-01 DOI:10.3389/fgene.2025.1611388

Yun Guo, Xiaoqin Xin, Linju Zhou, Jungao Huang

{"title":"Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities.","authors":"Yun Guo, Xiaoqin Xin, Linju Zhou, Jungao Huang","doi":"10.3389/fgene.2025.1611388","DOIUrl":null,"url":null,"abstract":"Objective: Chromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal cardiac abnormalities, with particular focus on the detection of genomic copy number variations (CNVs).Methods: A retrospective analysis was conducted on 98 pregnant women diagnosed with fetal cardiac abnormalities through ultrasound between January 2022 and June 2024. Amniotic fluid samples from all participants were subjected to the analysis of karyotyping and Chromosome microarray analysis. The detection rates of both techniques in different types of fetal cardiac abnormalities were compared, and the outcomes of positive cases were followed up.Results: Of the 98 fetuses with cardiac abnormalities, 12 cases showed abnormal genetic results, with a detection rate of 12.24%. Karyotyping identified 5 cases of abnormalities (5.10%), while the chromosome microarray analysis detected 11 cases (11.22%). In the group with isolated cardiac abnormalities (76 cases) and the group with cardiac abnormalities combined with other ultrasound abnormalities (22 cases), karyotyping detected 3.95% (3/76) and 9.09% (2/22) of abnormalities, with no significant statistical difference (P > 0.05). Chromosome microarray analysis detected abnormalities in 6.58% (5/76) of the isolated cardiac abnormalities group and 27.27% (6/22) in the group with combined abnormalities, showing a significant statistical difference (P < 0.05). Of the 12 positive cases, four were live births, eight were terminations, and postpartum cardiac abnormalities were found in two live births during follow-up.Conclusion: Chromosome microarray analysis has a higher detection rate in fetuses with cardiac abnormalities than traditional chromosome karyotyping, especially when fetal cardiac abnormalities are combined with other ultrasound abnormalities. It is recommended for clinical use to improve the detection of genetic alterations.","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1611388"},"PeriodicalIF":2.8000,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12237624/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3389/fgene.2025.1611388","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: Chromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal cardiac abnormalities, with particular focus on the detection of genomic copy number variations (CNVs).

Methods: A retrospective analysis was conducted on 98 pregnant women diagnosed with fetal cardiac abnormalities through ultrasound between January 2022 and June 2024. Amniotic fluid samples from all participants were subjected to the analysis of karyotyping and Chromosome microarray analysis. The detection rates of both techniques in different types of fetal cardiac abnormalities were compared, and the outcomes of positive cases were followed up.

Results: Of the 98 fetuses with cardiac abnormalities, 12 cases showed abnormal genetic results, with a detection rate of 12.24%. Karyotyping identified 5 cases of abnormalities (5.10%), while the chromosome microarray analysis detected 11 cases (11.22%). In the group with isolated cardiac abnormalities (76 cases) and the group with cardiac abnormalities combined with other ultrasound abnormalities (22 cases), karyotyping detected 3.95% (3/76) and 9.09% (2/22) of abnormalities, with no significant statistical difference (P > 0.05). Chromosome microarray analysis detected abnormalities in 6.58% (5/76) of the isolated cardiac abnormalities group and 27.27% (6/22) in the group with combined abnormalities, showing a significant statistical difference (P < 0.05). Of the 12 positive cases, four were live births, eight were terminations, and postpartum cardiac abnormalities were found in two live births during follow-up.

Conclusion: Chromosome microarray analysis has a higher detection rate in fetuses with cardiac abnormalities than traditional chromosome karyotyping, especially when fetal cardiac abnormalities are combined with other ultrasound abnormalities. It is recommended for clinical use to improve the detection of genetic alterations.

查看原文本刊更多论文

染色体微阵列分析和核型分析在胎儿心脏异常中的应用。

目的：染色体微阵列分析（CMA）和染色体核型分析是产前诊断中两种重要的基因检测技术。本研究旨在评估染色体微阵列分析和核型分析在胎儿心脏异常诊断中的价值，重点关注基因组拷贝数变异（CNVs）的检测。方法：回顾性分析2022年1月至2024年6月超声诊断为胎儿心脏异常的孕妇98例。对所有参与者的羊水样本进行核型分析和染色体微阵列分析。比较两种方法在不同类型胎儿心脏异常中的检出率，并对阳性病例进行随访。结果98例心脏异常胎儿中，遗传结果异常12例，检出率为12.24%。染色体微阵列分析异常11例（11.22%），核型分析异常5例（5.10%）。在单纯心脏异常组（76例）和合并其他超声异常组（22例）中，核型检出异常率分别为3.95%（3/76）和9.09%(2/22)，差异无统计学意义（P < 0.05）。染色体微阵列分析显示，单独心脏异常组异常率为6.58%(5/76)，合并异常组异常率为27.27%(6/22)，差异有统计学意义（P < 0.05）。在12例阳性病例中，4例活产，8例终止妊娠，随访中2例活产发现产后心脏异常。结论：染色体微阵列分析对心脏异常胎儿的检出率高于传统染色体核型分析，特别是当胎儿心脏异常合并其他超声异常时。它被推荐用于临床，以提高基因改变的检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.