Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis.

IF 1.3 4区医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

Iranian Journal of Public Health Pub Date : 2024-04-01 DOI:10.18502/ijph.v53i4.15560

Huafeng Li, Yongli Li, Yanli Zhang, Jinping Zhu, Yuqiang Huang

{"title":"Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis.","authors":"Huafeng Li, Yongli Li, Yanli Zhang, Jinping Zhu, Yuqiang Huang","doi":"10.18502/ijph.v53i4.15560","DOIUrl":null,"url":null,"abstract":"Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications.Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and Children's Health Care Hospital, who underwent standard G-banded karyotype analysis and CMA, were enrolled from 2018-2022. G-banded karyotype analysis and CMA were undergone simultaneously. All fetuses with genetic variants were enrolled for further analyzing. The frequency and differences of chromosomal abnormalities of the two methods were compared in different prenatal diagnosis indications groups.Results: CMA improved 4.09% (123/3007) of genetic changes compared karyotype analysis. CMA is on par with karyotyping for detection of aneuploidies and gross unbalanced rearrangements. Serological screening and ultrasound abnormalities were the main indications of prenatal diagnosis. The detection rate of chromosomal abnormalities was highest in non-invasive prenatal testing (NIPT) abnormal group. In the ultrasound abnormality group, the detection rate of genetic variants in nuchal translucency (NT) increased group was higher than other subgroups and there was statistically significant difference in the detection rate of pCNVs. CMA can detect 5.57% (40/718) more genetic abnormalities in ultrasound abnormality group on the normal karyotype. CMA improved 0.67% (20/3007) of genetic changes with clinically significant compared karyotype, brought 3.42% (103/3007) of variants with uncertain significance (VOUS).Conclusion: CMA identified additional, clinically significant genetic variants on the basis of normal karyotype analysis, brought a proportion of unclear significant variants. All the pregnant women accepted amniocentesis should be informed about their characteristics of karyotype analysis and CMA by genetic counselors.","PeriodicalId":49173,"journal":{"name":"Iranian Journal of Public Health","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11493562/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian Journal of Public Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.18502/ijph.v53i4.15560","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}

引用次数: 0

Abstract

Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications.

Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and Children's Health Care Hospital, who underwent standard G-banded karyotype analysis and CMA, were enrolled from 2018-2022. G-banded karyotype analysis and CMA were undergone simultaneously. All fetuses with genetic variants were enrolled for further analyzing. The frequency and differences of chromosomal abnormalities of the two methods were compared in different prenatal diagnosis indications groups.

Results: CMA improved 4.09% (123/3007) of genetic changes compared karyotype analysis. CMA is on par with karyotyping for detection of aneuploidies and gross unbalanced rearrangements. Serological screening and ultrasound abnormalities were the main indications of prenatal diagnosis. The detection rate of chromosomal abnormalities was highest in non-invasive prenatal testing (NIPT) abnormal group. In the ultrasound abnormality group, the detection rate of genetic variants in nuchal translucency (NT) increased group was higher than other subgroups and there was statistically significant difference in the detection rate of pCNVs. CMA can detect 5.57% (40/718) more genetic abnormalities in ultrasound abnormality group on the normal karyotype. CMA improved 0.67% (20/3007) of genetic changes with clinically significant compared karyotype, brought 3.42% (103/3007) of variants with uncertain significance (VOUS).

Conclusion: CMA identified additional, clinically significant genetic variants on the basis of normal karyotype analysis, brought a proportion of unclear significant variants. All the pregnant women accepted amniocentesis should be informed about their characteristics of karyotype analysis and CMA by genetic counselors.

查看原文本刊更多论文

评估核型分析和染色体微阵列在产前诊断中的应用。

背景：我们的目的是比较核型分析和染色体微阵列（CMA）在染色体异常方面的差异，并评估它们在不同产前诊断指征中的应用：共纳入2018-2022年临沂市妇幼保健院医学遗传科3007名具有产前诊断指征的孕妇，对其进行标准G带核型分析和CMA。G 带核型分析和 CMA 同时进行。所有存在基因变异的胎儿均被纳入进一步分析。比较了两种方法在不同产前诊断指征组中的染色体异常频率和差异：结果：与核型分析相比，CMA 改善了 4.09% （123/3007）的遗传变异。在检测非整倍体和严重不平衡重排方面，CMA 与核型分析不相上下。血清学筛查和超声波异常是产前诊断的主要指征。无创产前检测（NIPT）异常组的染色体异常检出率最高。在超声异常组中，颈部透明层（NT）增高组的基因变异检出率高于其他亚组，且 pCNV 的检出率在统计学上有显著差异。与正常核型相比，CMA 在超声异常组中可多检测出 5.57%（40/718）的基因异常。与核型相比，CMA改善了0.67%（20/3007）具有临床意义的基因变化，带来了3.42%（103/3007）具有不确定意义的变异（VOUS）：结论：CMA 在正常核型分析的基础上发现了更多具有临床意义的遗传变异，并带来了一定比例的意义不明确的变异。遗传咨询师应告知所有接受羊膜腔穿刺术的孕妇其核型分析和 CMA 的特点。

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

Iranian Journal of Public Health PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-

CiteScore

2.20

自引率

7.10%

发文量

300

审稿时长

3-8 weeks

期刊介绍： Iranian Journal of Public Health has been continuously published since 1971, as the only Journal in all health domains, with wide distribution (including WHO in Geneva and Cairo) in two languages (English and Persian). From 2001 issue, the Journal is published only in English language. During the last 41 years more than 2000 scientific research papers, results of health activities, surveys and services, have been published in this Journal. To meet the increasing demand of respected researchers, as of January 2012, the Journal is published monthly. I wish this will assist to promote the level of global knowledge. The main topics that the Journal would welcome are: Bioethics, Disaster and Health, Entomology, Epidemiology, Health and Environment, Health Economics, Health Services, Immunology, Medical Genetics, Mental Health, Microbiology, Nutrition and Food Safety, Occupational Health, Oral Health. We would be very delighted to receive your Original papers, Review Articles, Short communications, Case reports and Scientific Letters to the Editor on the above mentioned research areas.