项目编号 PRJCA003453
项目标题 DNA methylation detects origin, composition and aneuploidy of cell-free DNA in spent medium for human preimplantation embryos
涉及领域 Medical
数据类型 Whole genome sequencing
Epigenomics
物种名称 Homo sapiens
描述信息 The discovery of embryonic cell-free DNA (cfDNA) in spent embryo culture media (SEM) has brought hope for the noninvasive preimplantation genetic testing. However, the cellular origins of SEM cfDNA are not sufficiently understood and methods for determining maternal DNA contamination are limited. Here, we performed whole-genome DNA methylation sequencing for SEM cfDNA (n = 194). Our results demonstrated that SEM cfDNA were derived from blastocysts, cumulus cells and polar bodies. We identified the cumulus-specific differentially methylated regions (C-DMRs, n = 769) and the oocyte/polar body-specific DMRs (O-DMRs, n = 548), and established an algorithm for deducing the cumulus, the polar body and the net maternal DNA contamination ratios in SEM. We showed that DNA methylation sequencing accurately detected chromosome aneuploidy in SEM, and by integrating the origin analysis, it distinguished SEM samples between low and high false negative rate (FNR) and gender discordance rate (GDR). Our work gives new insights into characterization of the embryonic DNA in spent blastocyst media and provides a novel perspective for noninvasive preimplantation genetic testing in reproductive medicine.
样品范围 Single cell
发布日期 2022-05-11
出版信息
PubMed ID 文章标题 杂志名称 Doi 发表年份
34128477 DNA methylome reveals cellular origin of cell-free DNA in spent medium of human preimplantation embryos The Journal of Clinical Investigation 10.1172/JCI146051 2021
37086412 DNA methylation protocol for analyzing cell-free DNA in the spent culture medium of human preimplantation embryos STAR Protocols 10.1016/j.xpro.2023.102247 2023
项目资金来源
机构 项目类型 授权项目ID 授权项目名称
Ministry of Science and Technology of the People's Republic of China (MOST) National Key Technologies R&D Program 2018YFC1003100
National Natural Science Foundation of China (NSFC) General Program 82071721
提交者 Fuchou Tang (tangfuchou@pku.edu.cn)
提交单位 Peking University
提交日期 2020-09-14

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