Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY
Case Reports in Perinatal Medicine Pub Date : 2025-06-09 eCollection Date: 2025-01-01 DOI:10.1515/crpm-2024-0049
Masum Kayapınar, Zafer Bütün, Ece Akça Salık, Sinem Kocagil, Ezgi Susam
{"title":"Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.","authors":"Masum Kayapınar, Zafer Bütün, Ece Akça Salık, Sinem Kocagil, Ezgi Susam","doi":"10.1515/crpm-2024-0049","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. In this study, we examined the correlation between the results of chromosomal microarray analysis (CMA) and WES in pregnant women, as compared to conventional karyotype analysis and ultrasound (US) findings.</p><p><strong>Methods: </strong>Fetal US were performed on pregnant females referred to our clinic with suspected fetal anomalies, as well as those who had anomalies detected by targeted US. Comprehensive counseling was provided to all parents. Karyotyping, CMA, and WES were offered for all fetuses through amniocentesis, CVS, and cordocentesis. We compared the demographic data and ultrasound findings of pregnant females with normal and abnormal WES results.</p><p><strong>Results: </strong>WES results indicated a normal karyotype in 14 pregnant females and an abnormal karyotype in 12 pregnant females. CMA showed an abnormal karyotype in three of the pregnant females, whose WES results were normal. US findings were more frequently observed in pregnant females with abnormal WES results.</p><p><strong>Conclusions: </strong>Among the organ systems, the cardiac system is at the highest risk for anomalies. The risk further increases when multiple system anomalies are present. Incorporating WES alongside CMA may enhance diagnostic accuracy and be beneficial for subsequent pregnancies. Our US results do not align with the existing literature, and further evaluations with larger patient populations are needed to reconcile these findings with current research.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240049"},"PeriodicalIF":0.1000,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147533/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Perinatal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/crpm-2024-0049","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Objectives: With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. In this study, we examined the correlation between the results of chromosomal microarray analysis (CMA) and WES in pregnant women, as compared to conventional karyotype analysis and ultrasound (US) findings.

Methods: Fetal US were performed on pregnant females referred to our clinic with suspected fetal anomalies, as well as those who had anomalies detected by targeted US. Comprehensive counseling was provided to all parents. Karyotyping, CMA, and WES were offered for all fetuses through amniocentesis, CVS, and cordocentesis. We compared the demographic data and ultrasound findings of pregnant females with normal and abnormal WES results.

Results: WES results indicated a normal karyotype in 14 pregnant females and an abnormal karyotype in 12 pregnant females. CMA showed an abnormal karyotype in three of the pregnant females, whose WES results were normal. US findings were more frequently observed in pregnant females with abnormal WES results.

Conclusions: Among the organ systems, the cardiac system is at the highest risk for anomalies. The risk further increases when multiple system anomalies are present. Incorporating WES alongside CMA may enhance diagnostic accuracy and be beneficial for subsequent pregnancies. Our US results do not align with the existing literature, and further evaluations with larger patient populations are needed to reconcile these findings with current research.

研究了CMA和WES对常规核型分析结果为正常核型的孕妇的有效性。
随着下一代测序(NGS)技术的进步,全外显子组测序(WES)已被证明可用于产前和产后诊断各种疾病,特别是神经发育障碍。在这项研究中,我们检查了孕妇染色体微阵列分析(CMA)和WES结果与常规核型分析和超声(US)结果之间的相关性。方法:对来我院就诊的疑似胎儿异常的孕妇以及经靶向超声检测出异常的孕妇进行胎儿超声检查。为所有家长提供全面的辅导。通过羊膜穿刺术、CVS和脐带穿刺术对所有胎儿进行核型、CMA和WES检测。我们比较了人口统计学资料和超声检查结果正常和异常的孕妇。结果:WES结果显示核型正常14例,核型异常12例。CMA结果显示3例妊娠女性核型异常,而WES结果正常。WES结果异常的孕妇更常出现US结果。结论:在器官系统中,心脏系统是发生异常的高危器官。当存在多个系统异常时,风险进一步增加。结合WES和CMA可以提高诊断的准确性,并有利于后续妊娠。我们在美国的研究结果与现有文献不一致,需要在更大的患者群体中进行进一步的评估,以使这些发现与当前的研究相一致。
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
Case Reports in Perinatal Medicine
Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-
自引率
0.00%
发文量
37
期刊介绍: Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信