ArticlePLoS genetics2022
Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing.
Article in PLoS genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- A medium throughput approach for single cell copy number variation sequencing towards efficient application in clinics.Journal of advanced research · 2026Article
- Chromosomal segregation and recombination in human sperm cells from reciprocal translocation carriers.Journal of assisted reproduction and genetics · 2025Article
- Parental and cell-division origin analysis to reduce false-positives in mosaic embryos for preimplantation genetic testing.Human reproduction open · 2025Article
- Article
- Concurrent Preimplantation Genetic Testing and Competence Assessment of Human Embryos by Transcriptome Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development.Journal of assisted reproduction and genetics · 2024Review
- Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.The Journal of clinical investigation · 2024Article
- Insights into embryonic chromosomal instability: mechanisms of DNA elimination during mammalian preimplantation development.Frontiers in cell and developmental biology · 2024Review
- Omics Views of Mechanisms for Cell Fate Determination in Early Mammalian Development.Genomics, proteomics & bioinformatics · 2023Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal mosaicism is common throughout human pre- and post-implantation development. However, the incidence and characteristics of mosaicism in human blastocyst remain unclear. Concerns and confusions still exist regarding the interpretation of chromosomal mosaicism on preimplantation genetic testing for aneuploidy (PGT-A) results and embryo development. Here, we aimed to estimate the genetic concordance between trophectoderm (TE), inner cell mass (ICM) and the corresponding human embryonic stem cells (hESCs), and to explore the characteristics of mosaicism in human blastocyst and hESCs on a single cell level. The single cell sequencing results of TE cells indicated that 65.71% of the blastocysts were mosaic (23 in 35 embryos), while the ICM sequencing results suggested that 60.00% of the blastocysts were mosaic (9 in 15 embryos). The incidence of mosaicism for the corresponding hESCs was 33.33% (2 in 6 embryos). No significant difference was observed between the mosaic rate of TE and that of ICM. However, the mosaic rate of the corresponding hESCs was significantly lower than that of TE and ICM cells, suggesting that the incidence of mosaicism may decline during embryonic development. Upon single cell sequencing, we found several "complementary" copy number variations (CNVs) that were usually not revealed in clinical PGT-A which used multi-cell DNA sequencing (or array analysis). This indicates the potential diagnostic risk of PGT-A based multi-cell analysis routinely in clinical practice. This study provided new insights into the characteristics, and considerable influences, of mosaicism on human embryo development, as well as the clinical risks of PGT-A based on multi-cell biopsies and bulk DNA assays.
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