Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping

IF 2.6 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY Journal of Clinical Laboratory Analysis Pub Date : 2025-01-21 DOI:10.1002/jcla.25154

Chenxia Xu, Yi Xiong, Degang Wang, Sheng Zhang, Xuewei Wu, Miaoyuan Li

{"title":"Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping","authors":"Chenxia Xu, Yi Xiong, Degang Wang, Sheng Zhang, Xuewei Wu, Miaoyuan Li","doi":"10.1002/jcla.25154","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Objective</h3>\n \n <p>To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Chromosome mosaicism was detected in 1.49% of cases (30/2007). Sex chromosome mosaicism was the most common form of mosaicism. Among the 30 mosaicisms, 18 results were consistent between the two methods. In four cases, CMA indicated mosaicism but the karyotypes were normal. In eight cases, CMA was normal while the karyotypes suggested mosaicism.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>CMA and karyotyping complement each other in prenatal genetic diagnosis. Combining both methods enhances detection accuracy, particularly in cases of chromosomal mosaicism, which may be missed after the subculture of adherent cells in karyotype analysis.</p>\n </section>\n </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 4","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25154","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Laboratory Analysis","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jcla.25154","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective

To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.

Methods

We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.

Results

Chromosome mosaicism was detected in 1.49% of cases (30/2007). Sex chromosome mosaicism was the most common form of mosaicism. Among the 30 mosaicisms, 18 results were consistent between the two methods. In four cases, CMA indicated mosaicism but the karyotypes were normal. In eight cases, CMA was normal while the karyotypes suggested mosaicism.

Conclusions

CMA and karyotyping complement each other in prenatal genetic diagnosis. Combining both methods enhances detection accuracy, particularly in cases of chromosomal mosaicism, which may be missed after the subculture of adherent cells in karyotype analysis.

Abstract Image

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

评估染色体镶嵌在产前诊断：染色体微阵列分析和核型的互补作用。

目的：探讨体外细胞传代培养对产前诊断样品结果的影响，并比较常规核型和染色体微阵列分析（CMA）检测染色体嵌合现象的效果。方法：回顾性分析2007年羊膜穿刺术患者的g带核型和CMA数据，探讨染色体嵌合现象。结果：1.49%的病例（30/2007）检出染色体嵌合现象。性染色体镶嵌是最常见的镶嵌形式。在30个拼接结果中，有18个结果与两种方法吻合。4例CMA显示嵌合体，但核型正常。8例CMA正常，核型提示嵌合。结论：CMA与染色体组型在产前遗传诊断中具有互补性。结合这两种方法提高了检测的准确性，特别是在染色体嵌合体的情况下，这可能是在核型分析中贴壁细胞传代培养后遗漏的。

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分钟内获得全文去求助

来源期刊

Journal of Clinical Laboratory Analysis 医学-医学实验技术

CiteScore

5.60

自引率

7.40%

发文量

584

审稿时长

6-12 weeks

期刊介绍： Journal of Clinical Laboratory Analysis publishes original articles on newly developing modes of technology and laboratory assays, with emphasis on their application in current and future clinical laboratory testing. This includes reports from the following fields: immunochemistry and toxicology, hematology and hematopathology, immunopathology, molecular diagnostics, microbiology, genetic testing, immunohematology, and clinical chemistry.