• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.

作者信息

Chang Jiazhen, Li Mengmeng, Jiang Yulin, Zhou Xiya, Hao Na, Yu Yiqing, Lü Yan, Qi Qingwei

机构信息

Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.

出版信息

BMC Pregnancy Childbirth. 2025 Sep 1;25(1):912. doi: 10.1186/s12884-025-08018-9.

DOI:10.1186/s12884-025-08018-9
PMID:40890635
Abstract
摘要

相似文献

1
Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.通过CMA-seq检测到的嵌合体的产前诊断及妊娠结局
BMC Pregnancy Childbirth. 2025 Sep 1;25(1):912. doi: 10.1186/s12884-025-08018-9.
2
Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies.使用中等覆盖度全基因组测序（CMA-Seq）进行胎儿结构异常的产前诊断：3973例妊娠中与CMA的大规模比较研究
BJOG. 2025 Sep;132(10):1489-1501. doi: 10.1111/1471-0528.18222. Epub 2025 May 23.
3
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism.综合 CNV-seq、核型分析和 SNP 芯片分析在染色体嵌合体产前诊断中的应用。
BMC Med Genomics. 2021 Feb 25;14(1):56. doi: 10.1186/s12920-021-00899-x.
4
Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.在32967例产前诊断中，通过核型分析、染色体微阵列分析和QF-PCR有效检测出148例染色体嵌合体。
BMC Med Genomics. 2025 Apr 10;18(1):70. doi: 10.1186/s12920-025-02138-z.
5
Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.全基因组测序相对于染色体微阵列分析和外显子组测序在产前和婴儿期先天性畸形中的增量收益：系统评价和荟萃分析。
Ultrasound Obstet Gynecol. 2024 Jan;63(1):15-23. doi: 10.1002/uog.27491.
6
Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.采用三种算法整合的中等覆盖度全基因组测序技术对流产组织中的三倍体进行筛查。
J Assist Reprod Genet. 2025 Aug 1. doi: 10.1007/s10815-025-03607-1.
7
Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?7号染色体三体嵌合病例的产前诊断：比较基因组杂交（CMA）、拷贝数变异测序（CNV-seq）、核型分析、间期荧光原位杂交（FISH）和甲基化特异性多重连接探针扩增技术（MS-MLPA），该选择哪种技术？
BMC Pregnancy Childbirth. 2024 May 3;24(1):338. doi: 10.1186/s12884-024-06522-y.
8
A retrospective analysis of 6942 amniocentesis cases.对6942例羊膜穿刺术病例的回顾性分析。
BMC Pregnancy Childbirth. 2025 Aug 12;25(1):838. doi: 10.1186/s12884-025-07992-4.
9
The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.在产前诊断中，非整倍体染色体嵌合体的核型分析与染色体微阵列分析的差异。
J Clin Lab Anal. 2020 Dec;34(12):e23514. doi: 10.1002/jcla.23514. Epub 2020 Aug 30.
10
[Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing].[对接受植入前基因检测的孕妇进行侵入性产前诊断的非靶向变异分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Nov 10;41(11):1283-1289. doi: 10.3760/cma.j.cn511374-20240320-00181.

本文引用的文献

1
Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?7号染色体三体嵌合病例的产前诊断：比较基因组杂交（CMA）、拷贝数变异测序（CNV-seq）、核型分析、间期荧光原位杂交（FISH）和甲基化特异性多重连接探针扩增技术（MS-MLPA），该选择哪种技术？
BMC Pregnancy Childbirth. 2024 May 3;24(1):338. doi: 10.1186/s12884-024-06522-y.
2
Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.在产前诊断中使用低深度全基因组测序检测杂合性镶嵌缺失（AOH）：初步报告
Diagnostics (Basel). 2023 Sep 9;13(18):2895. doi: 10.3390/diagnostics13182895.
3
Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.
在产前诊断中使用中等覆盖度全基因组测序染色体分析（CMA-seq）评估和分析纯合性缺失（AOH）
Diagnostics (Basel). 2023 Feb 2;13(3):560. doi: 10.3390/diagnostics13030560.
4
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.结节性硬化症中的镶嵌现象：降低临床报告阈值
Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6.
5
Prenatal Diagnosis of Chromosomal Mosaicism in Over 18,000 Pregnancies: A Five-Year Single-Tertiary-Center Retrospective Analysis.超过18000例妊娠中染色体镶嵌现象的产前诊断：一项为期五年的单中心回顾性分析
Front Genet. 2022 May 16;13:876887. doi: 10.3389/fgene.2022.876887. eCollection 2022.
6
Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis.探讨联合应用拷贝数变异测序与细胞遗传学核型分析进行产前诊断。
BMC Pregnancy Childbirth. 2021 Jul 8;21(1):496. doi: 10.1186/s12884-021-03918-y.
7
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.基于低通量基因组测序检测杂合性缺失：临床细胞遗传学中的验证
Genet Med. 2021 Jul;23(7):1225-1233. doi: 10.1038/s41436-021-01128-7. Epub 2021 Mar 26.
8
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism.综合 CNV-seq、核型分析和 SNP 芯片分析在染色体嵌合体产前诊断中的应用。
BMC Med Genomics. 2021 Feb 25;14(1):56. doi: 10.1186/s12920-021-00899-x.
9
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.同时检测 CNVs 和 SNVs 可提高超声异常和正常核型胎儿的诊断检出率。
Genes (Basel). 2020 Nov 25;11(12):1397. doi: 10.3390/genes11121397.
10
Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis.染色体核型分析和染色体微阵列分析在产前诊断中检测到的染色体嵌合体。
J Cell Mol Med. 2021 Jan;25(1):358-366. doi: 10.1111/jcmm.16080. Epub 2020 Nov 17.