扩大无创产前检测母体拷贝数变异的准确性：与母体淋巴细胞 DNA CNV-seq 的比较研究

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-07-01 DOI:10.1016/j.tjog.2024.02.006

Honglei Duan , Wanjun Wang , Ying Zhang , Xuemei Chen , Zihan Jiang , Jie Li

{"title":"扩大无创产前检测母体拷贝数变异的准确性：与母体淋巴细胞 DNA CNV-seq 的比较研究","authors":"Honglei Duan , Wanjun Wang , Ying Zhang , Xuemei Chen , Zihan Jiang , Jie Li","doi":"10.1016/j.tjog.2024.02.006","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations.</p></div><div><h3>Materials and methods</h3><p>Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of maternal duplication was CN ≥ 2.4.</p></div><div><h3>Results</h3><p>Of the 5440 pregnant women with successful expanded NIPT results, 28 maternal CNVs ≥2 Mb were detected in 27 pregnant women. Except for five cases reported as test failure, 23 CNVs ≥2 Mb were confirmed among the remaining 22 pregnant women by CNV-seq of maternal lymphocyte DNA. The genomic location, copy numbers and fragment size of maternal CNVs reported by expanded NIPT were consistent with the results of CNV-seq of maternal lymphocyte DNA.</p></div><div><h3>Conclusions</h3><p>Maternal CNVs ≥2 Mb can be accurately evaluated according to the CN indicated by expanded NIPT results.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 4","pages":"Pages 536-539"},"PeriodicalIF":2.0000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001311/pdfft?md5=2a64308e8884a8983046e01f0fa2f98f&pid=1-s2.0-S1028455924001311-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA\",\"authors\":\"Honglei Duan , Wanjun Wang , Ying Zhang , Xuemei Chen , Zihan Jiang , Jie Li\",\"doi\":\"10.1016/j.tjog.2024.02.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations.</p></div><div><h3>Materials and methods</h3><p>Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of maternal duplication was CN ≥ 2.4.</p></div><div><h3>Results</h3><p>Of the 5440 pregnant women with successful expanded NIPT results, 28 maternal CNVs ≥2 Mb were detected in 27 pregnant women. Except for five cases reported as test failure, 23 CNVs ≥2 Mb were confirmed among the remaining 22 pregnant women by CNV-seq of maternal lymphocyte DNA. The genomic location, copy numbers and fragment size of maternal CNVs reported by expanded NIPT were consistent with the results of CNV-seq of maternal lymphocyte DNA.</p></div><div><h3>Conclusions</h3><p>Maternal CNVs ≥2 Mb can be accurately evaluated according to the CN indicated by expanded NIPT results.</p></div>\",\"PeriodicalId\":49449,\"journal\":{\"name\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"volume\":\"63 4\",\"pages\":\"Pages 536-539\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001311/pdfft?md5=2a64308e8884a8983046e01f0fa2f98f&pid=1-s2.0-S1028455924001311-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001311\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Taiwanese Journal of Obstetrics & Gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1028455924001311","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

目的评估扩大无创产前检测（NIPT）检测母体拷贝数变异的准确性。材料与方法使用扩大无创产前检测在全基因组范围内检测≥2 Mb的CNV。结果在5440名成功获得扩增NIPT结果的孕妇中，有27名孕妇检测出28个母体拷贝数≥2 Mb的CNV。除 5 例检测失败的孕妇外，其余 22 例孕妇通过对母体淋巴细胞 DNA 进行 CNV-seq 分析，确认了 23 个≥2 Mb 的 CNV。扩增 NIPT 报告的母体 CNV 的基因组位置、拷贝数和片段大小与母体淋巴细胞 DNA 的 CNV-seq 结果一致。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

Objective

To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations.

Materials and methods

Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of maternal duplication was CN ≥ 2.4.

Results

Of the 5440 pregnant women with successful expanded NIPT results, 28 maternal CNVs ≥2 Mb were detected in 27 pregnant women. Except for five cases reported as test failure, 23 CNVs ≥2 Mb were confirmed among the remaining 22 pregnant women by CNV-seq of maternal lymphocyte DNA. The genomic location, copy numbers and fragment size of maternal CNVs reported by expanded NIPT were consistent with the results of CNV-seq of maternal lymphocyte DNA.

Conclusions

Maternal CNVs ≥2 Mb can be accurately evaluated according to the CN indicated by expanded NIPT results.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.