Single-cell Sequencing Reveals Clearance of Blastula Chromosomal Mosaicism in In Vitro Fertilization Babies
- Author:
Gao YUAN
1
,
2
,
3
;
Zhang JINNING
;
Liu ZHENYU
;
Qi SHUYUE
;
Guo XINMENG
;
Wang HUI
;
Cheng YANFEI
;
Tian SHUANG
;
Ma MINYUE
;
Peng HONGMEI
;
Wen LU
;
Tang FUCHOU
;
Yao YUANQING
Author Information
1. Biomedical Pioneering Innovation Center,School of Life Sciences,Peking University,Beijing 100871,China
2. Peking-Tsinghua Center for Life Sciences,Academy for Advanced Interdisciplinary Studies,Peking University,Beijing 100871,China
3. Beijing Advanced Innovation Center for Genomics,MOE Key Laboratory of Cell Proliferation and Differentiation,Beijing 100871,China
- Keywords:
Mosaicism;
Pre-implantation genetic testing for aneuploidy;
Next-generation sequencing;
Single-cell multi-omics sequencing;
Mosaic embryo transfer
- From:
Genomics, Proteomics & Bioinformatics
2022;(6):1224-1231
- CountryChina
- Language:Chinese
-
Abstract:
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 sequenc-ing for seven infants with blastula chromosomal mosaicism detected by TE biopsy.The chromo-some 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 seem-ingly 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 dur-ing 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 trans-ferring chromosomal mosaic embryos in certain situations.
