ArticleThe Journal of clinical investigation2024
Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.
Article in The Journal of clinical investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- 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
- Metabolic imaging for gamete and embryo assessment through advanced microscopy technologies: a novel avenue for artificial intelligence?Human reproduction (Oxford, England) · 2026Review
- Live imaging of late-stage preimplantation human embryos reveals de novo mitotic errors.Nature biotechnology · 2026Article
- Genomic stability of human pluripotent stem cells: advances in research and screening criteria.Stem cells translational medicine · 2026Review
- Aneuploidy in exfoliated buccal cells: mechanisms, methods, and future perspectives.Mutagenesis · 2026Review
- Morphogen Gradients as Drivers of Mosaicism During Early Human Development.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations.Human reproduction (Oxford, England) · 2026Article
- Using endometrial immune profiling in young IVF patients: implantation rates improved for morphologically sub-optimal embryos.Frontiers in immunology · 2026Article
- From cellular heterogeneity to precision medicine: single-cell multi-omics in CNS disease research.Frontiers in cellular neuroscience · 2026Review
- Risk factors associated with meiotic errors in blastocysts with mosaic results on biopsy.Human reproduction open · 2026Article
- Phytomycobiomes and Ecosystem Services: Mechanisms, Evidence and Routes to Application.Journal of fungi (Basel, Switzerland) · 2025Review
- Transcriptomics empower assisted reproductive technology in decoding gamete and embryo development potential: a review.Journal of assisted reproduction and genetics · 2025Review
- Article
- 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
- Depletion of aneuploid cells is shaped by cell-to-cell interactions.Cell genomics · 2025Article
- Integration of Bioengineered Tools in Assisted Reproductive Technologies.Advanced healthcare materials · 2025Review
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.bioRxiv : the preprint server for biology · 2025Article
- Cell competition eliminates aneuploid human pluripotent stem cells.Stem cell reports · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aneuploidy, a deviation from the normal chromosome copy number, is common in human embryos and is considered a primary cause of implantation failure and early pregnancy loss. Meiotic errors lead to uniformly abnormal karyotypes, while mitotic errors lead to chromosomal mosaicism: the presence of cells with at least 2 different karyotypes within an embryo. Knowledge about mosaicism in blastocysts mainly derives from bulk DNA sequencing (DNA-Seq) of multicellular trophectoderm (TE) and/or inner cell mass (ICM) samples. However, this can only detect an average net gain or loss of DNA above a detection threshold of 20%-30%. To accurately assess mosaicism, we separated the TE and ICM of 55 good-quality surplus blastocysts and successfully applied single-cell whole-genome sequencing (scKaryo-Seq) on 1,057 cells. Mosaicism involving numerical and structural chromosome abnormalities was detected in 82% of the embryos, in which most abnormalities affected less than 20% of the cells. Structural abnormalities, potentially caused by replication stress and DNA damage, were observed in 69% of the embryos. In conclusion, our findings indicated that mosaicism was prevalent in good-quality blastocysts, whereas these blastocysts would likely be identified as normal with current bulk DNA-Seq techniques used for preimplantation genetic testing for aneuploidy.
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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.