Single-cell Sequencing Reveals Clearance of Blastula Chromosomal Mosaicism in In Vitro Fertilization Babies  

作　　者：Yuan Gao Jinning Zhang Zhenyu Liu Shuyue Qi Xinmeng Guo Hui Wang Yanfei Cheng Shuang Tian Minyue Ma Hongmei Peng Lu Wen Fuchou Tang Yuanqing Yao 

机构地区：[1]Biomedical Pioneering Innovation Center,School of Life Sciences,Peking University,Beijing 100871,China [2]Department of Gynaecology and Obstetrics,The First Medical Center of PLA General Hospital,Beijing 100853,China [3]Peking-Tsinghua Center for Life Sciences,Academy for Advanced Interdisciplinary Studies,Peking University,Beijing 100871,China [4]Reproductive Medicine and Prenatal Diagnosis Center,The University of Hong Kong-Shenzhen Hospital,Shenzhen 518053,China [5]Beijing Advanced Innovation Center for Genomics,MOE Key Laboratory of Cell Proliferation and Differentiation,Beijing 100871,China

出　　处：《Genomics, Proteomics & Bioinformatics》2022年第6期1224-1231,共8页基因组蛋白质组与生物信息学报（英文版）

基　　金：the National Key R&D Program of China(Grant No.2018YFC1003100).

摘　　要：Although chromosomal mosaic embryos detected by trophectoderm(TE)biopsy offer healthy embryos available for transfer,high-resolution postnatal karyotyping and chromosome testing of the transferred embryos are insufficient.Here,we applied single-cell multi-omics sequencing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromosome ploidy was examined by single-cell genome analysis,with the cellular identity being identified by single-cell transcriptome analysis.A total of 1616 peripheral leukocytes from seven infants with embryonic chromosomal mosaicism and three control ones with euploid TE biopsy were analyzed.A small number of blood cells showed copy number alterations(CNAs)on seemingly random locations at a frequency of 0%-2.5%per infant.However,none of the cells showed CNAs that were the same as those of the corresponding TE biopsies.The blastula chromosomal mosaicism may be fully self-corrected,probably through the selective loss of the aneuploid cells during development,and the transferred embryos can be born as euploid infants without mosaic CNAs corresponding to the TE biopsies.The results provide a new reference for the evaluations of transferring chromosomal mosaic embryos in certain situations.

关 键 词：MOSAICISM Pre-implantation genetic testing for aneuploidy Next-generation sequencing Single-cell multi-omics sequencing Mosaic embryo transfer 

分 类 号：R714.5[医药卫生—妇产科学]