ArticleCell discovery2024
Human embryos harbor complex mosaicism with broad presence of aneuploid cells during early development.
Article in Cell discovery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Live birth and other reproductive outcomes of mosaic and euploid embryos: a systematic review and meta-analysis.Journal of assisted reproduction and genetics · 2025Pooled it
- From Static to Dynamic: Fluorescence Imaging Technology Advances Precise Embryo Evaluation.Small methods · 2026Review
- Dysregulated differentiation kinetics underlie the essential role of DNA damage repair in placental development.Nature communications · 2026Article
- Genomic stability of human pluripotent stem cells: advances in research and screening criteria.Stem cells translational medicine · 2026Review
- Identification of candidate genes associated with mitotic-origin aneuploidy: a genome-wide association study.Journal of assisted reproduction and genetics · 2026Article
- Generation of tetraploid organs in mice.Zoological research · 2026Article
- Morphogen Gradients as Drivers of Mosaicism During Early Human Development.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Genetic analysis of biopsy-related droplets in patients undergoing PGT-A and its potential application.Frontiers in endocrinology · 2026Article
- Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing.Frontiers in genetics · 2026Article
- Risk factors associated with meiotic errors in blastocysts with mosaic results on biopsy.Human reproduction open · 2026Article
- Reproductive outcomes of mosaic embryo transfers in preimplantation genetic testing for structural rearrangement cycles: a retrospective cohort study.Journal of assisted reproduction and genetics · 2026Article
- Introducing the Blastocyst Fragmentation Indicator (BFI): A Novel Time-Lapse Metric for Enhanced Aneuploidy Risk Stratification in Non-Invasive Embryo Assessment.JBRA assisted reproduction · 2026Article
- Re-biopsy and modified biopsy in mosaic human embryos with simple segmental chromosomal deletion.Reproductive biology and endocrinology : RB&E · 2025Article
- Article
- Healthy live birth after microsurgical enucleation of tripronuclear human zygote derived from ICSI: a case report.Journal of ovarian research · 2025Article
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- The Consequences of DNA Damage in the Early Embryo Are Important for Practical Procedures in Assisted Reproduction.International journal of molecular sciences · 2025Review
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.Genetics · 2025Article
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.bioRxiv : the preprint server for biology · 2025Article
- CDK1 mediates the metabolic regulation of DNA double-strand break repair in metaphase II oocytes.BMC biology · 2025Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pre-implantation genetic testing for aneuploidy (PGT-A) is used in approximately half of in vitro fertilization cycles. Given the limited understanding of the genetics of human embryos, the current use of PGT-A is based on biologically uncertain assumptions and unvalidated guidelines, leading to the possibility of disposing of embryos with pregnancy potential. We isolated and sequenced all single cells (1133) from in vitro cultured 20 human blastocysts. We found that all blastocysts exhibited mosaicism with mitotic-induced aneuploid cells and showed an ~25% aneuploidy rate per embryo. Moreover, 70% (14/20) of blastocysts contained 'chromosome-complementary' cells, suggesting genetic mosaicism is underestimated in routine PGT-A. Additionally, the analysis of 20,945 single cells from day 8-14 embryos (in vitro cultured) and embryonic/fetal organs showed that 97% of the analyzed embryos/organs were mosaic. Over 96% of their aneuploid cells harbored ≤ 2 chromosome errors. Our findings have revealed a high prevalence of mosaicism in human embryos.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.