ReviewHuman reproduction (Oxford, England)2017
Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities.
Review in Human reproduction (Oxford, England), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses 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.
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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
62 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research.International journal of molecular sciences · 2021Pooled it
- The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis.Genes · 2020Pooled it
- Sequencing platforms influence segmental aneuploidy and cumulative live birth rate: A single-center cohort study.Journal of assisted reproduction and genetics · 2026Article
- Review
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.Genetics · 2025Article
- Technical laboratory procedures faced on many oocytes picked up in vitro fertilization cycles.JBRA assisted reproduction · 2025Article
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.bioRxiv : the preprint server for biology · 2025Article
- Advanced strategies for single embryo selection in assisted human reproduction: A review of clinical practice and research methods.Clinical and experimental reproductive medicine · 2025Article
- Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.International journal of fertility & sterility · 2025Article
- Influencing factors of three pronuclei incidence and their impact on pregnancy outcomes in women with good prognosis undergoing conventionalFrontiers in reproductive health · 2025Article
- Correlation among blastocoel fluid DNA level, apoptotic genes expression and preimplantation aneuploidy.Reproduction & fertility · 2025Article
- Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.Journal of clinical medicine · 2024Article
- Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development.Journal of assisted reproduction and genetics · 2024Review
- Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview.Journal of clinical medicine · 2024Review
- Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.Human reproduction open · 2024Article
- Challenges experienced by genetic counselors while they provided counseling about mosaic embryos.F&S reports · 2023Article
- The importance of standardizing criteria for PGT-A interpretation of blastocysts analyzed by next-generation sequencing.JBRA assisted reproduction · 2023Article
- The correlation between morphological parameters and the incidence of de novo chromosomal abnormalities in 3238 biopsied blastocysts.Journal of assisted reproduction and genetics · 2023Article
- The embryo mosaicism profile of next-generation sequencing PGT-A in different clinical conditions and their associations.Frontiers in reproductive health · 2023Article
- Metaphase-II oocyte competence is unlinked to the gonadotrophins used for ovarian stimulation: a matched case-control study in women of advanced maternal age.Journal of assisted reproduction and genetics · 2023Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Embryonic mosaicism, defined as the presence of karyotypically distinct cell lines within an embryo, has been frequently reported with a high incidence in preimplantation embryos derived from IVF and is thought to be one of the major biological limitations for the routine application of PGD for aneuploidies (PGD-A). The incidence of mosaicism in preimplantation embryos is in fact reported to be between 4 and 90%. However, these data are in sharp contrast with what is known from clinical pregnancies, where true foetal mosaicism is observed in less than 0.5% of cases. Here, we challenge these previous observations in preimplantation embryos, presenting an alternative perspective, which also considers the impact of technical variation to diagnose mosaicism as one possible cause contributing to overestimation of the incidence of mosaicism in embryos. Although euploid/aneuploid mosaicism may be present in blastocysts, the possibility of detecting this phenomenon within a single trophectoderm biopsy represents a contemporary challenge to bring about improvement to the practice of PGD-A. The purpose of this opinion paper is to provide a critical review of the literature, provide a possible alternative interpretation of the data, and discuss future challenges with diagnosing mosaicism in PGD-A cycles.
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