通过CMA-seq检测到的嵌合体的产前诊断及妊娠结局 - Suppr

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

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本文引用的文献

Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?

BMC Pregnancy Childbirth. 2024 May 3;24(1):338. doi: 10.1186/s12884-024-06522-y.

Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.

Diagnostics (Basel). 2023 Sep 9;13(18):2895. doi: 10.3390/diagnostics13182895.

Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.

Diagnostics (Basel). 2023 Feb 2;13(3):560. doi: 10.3390/diagnostics13030560.

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6.

Prenatal Diagnosis of Chromosomal Mosaicism in Over 18,000 Pregnancies: A Five-Year Single-Tertiary-Center Retrospective Analysis.

Front Genet. 2022 May 16;13:876887. doi: 10.3389/fgene.2022.876887. eCollection 2022.

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BMC Pregnancy Childbirth. 2021 Jul 8;21(1):496. doi: 10.1186/s12884-021-03918-y.

Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.

Genet Med. 2021 Jul;23(7):1225-1233. doi: 10.1038/s41436-021-01128-7. Epub 2021 Mar 26.

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BMC Med Genomics. 2021 Feb 25;14(1):56. doi: 10.1186/s12920-021-00899-x.

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Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis.

J Cell Mol Med. 2021 Jan;25(1):358-366. doi: 10.1111/jcmm.16080. Epub 2020 Nov 17.

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

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