ArticleAmerican journal of human genetics2023
Identifying parental and cell-division origins of aneuploidy in the human blastocyst.
Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- From Static to Dynamic: Fluorescence Imaging Technology Advances Precise Embryo Evaluation.Small methods · 2026Review
- Reproductive outcomes of mosaic embryo transfers - rethinking the clinical relevance of contemporary mosaicism reporting in preimplantation genetic testing for aneuploidy.Current opinion in obstetrics & gynecology · 2026Review
- Factors associated withFrontiers in endocrinology · 2026Article
- Risk factors associated with meiotic errors in blastocysts with mosaic results on biopsy.Human reproduction open · 2026Article
- Sequencing platforms influence segmental aneuploidy and cumulative live birth rate: A single-center cohort study.Journal of assisted reproduction and genetics · 2026Article
- Novel biallelic MEI1 variants cause female infertility characterized by multiple pronuclei formation and aberrant embryonic development.Journal of ovarian research · 2025Article
- Capturing aberrant cell behaviors producing defects in human embryos via live imaging.Science advances · 2025Article
- Structural rearrangements affect blastocyst development.Archives of gynecology and obstetrics · 2025Article
- Genome instability in mammalian embryos implications for genome editing, development, and evolution.Current opinion in genetics & development · 2025Review
- Review
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Chromosome number alterations cause apoptosis and cellular hypertrophy in induced pluripotent stem cell models of embryonic epiblast cells.Biology open · 2025Article
- Parental and cell-division origin analysis to reduce false-positives in mosaic embryos for preimplantation genetic testing.Human reproduction open · 2025Article
- Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation.Human reproduction open · 2025Article
- Human embryos harbor complex mosaicism with broad presence of aneuploid cells during early development.Cell discovery · 2024Article
- Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.Nature communications · 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
- Effects of ovarian stimulation on embryo euploidy: an analysis of 12 874 oocytes and 3106 blastocysts in cycles with preimplantation genetic testing for monogenic disorders.Human reproduction open · 2024Article
- Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.Human reproduction open · 2024Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation genetic testing commonly employs simplistic copy-number analyses to screen for aneuploidy in blastocyst trophectoderm biopsies. Interpreting intermediate copy number alone as evidence of mosaicism has led to suboptimal estimation of its prevalence. Because mosaicism originates from mitotic nondisjunction, utilizing SNP microarray technology to identify the cell-division origins of aneuploidy might provide a more accurate estimation of its prevalence. The present study develops and validates a method of determining the cell-division origin of aneuploidy in the human blastocyst by using both genotyping and copy-number data in parallel. The concordance of predicted origins with expected results was demonstrated in a series of truth models (99%-100%). This included determination of X chromosome origins from a subset of normal male embryos, determination of the origins of translocation chromosome-related imbalances via embryos from couples with structural rearrangements, and prediction of either mitotic or meiotic origins via multiple rebiopsies of embryos with aneuploidy. In a cohort of blastocysts with parental DNA (n = 2,277), 71% were euploid, 27% were meiotic aneuploid, and 2% were mitotic aneuploid, indicating a low frequency of bona fide mosaicism in the human blastocyst (mean maternal age: 34.4). Chromosome-specific trisomies in the blastocyst were also consistent with observations previously established in products of conception. The ability to accurately identify mitotic-origin aneuploidy in the blastocyst could benefit and better inform individuals whose IVF cycle results in all aneuploid embryos. Clinical trials with this methodology might also help provide a definitive answer regarding the reproductive potential of bona fide mosaic embryos.
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