ArticleAmerican journal of human genetics2020
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 4 of them syntheses that pooled it.
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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
56 citing papers in PubMed, 4 syntheses or guidelines pooled it, 105 citations in OpenAlex.
- Misdiagnosis of different types of aneuploidy in preimplantation genetic testing (PGT): a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).Journal of assisted reproduction and genetics · 2025Guideline
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled 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
- Another round, another chance: oocyte developmental competence and outcomes in second IVF attempts-the earlier, the better.Journal of assisted reproduction and genetics · 2026Observational
- Clinical and morphological correlates of embryonic mosaicism: a retrospective cohort study of 10,469 blastocysts in PGT-A cycles.Frontiers in endocrinology · 2026Article
- Sequencing platforms influence segmental aneuploidy and cumulative live birth rate: A single-center cohort study.Journal of assisted reproduction and genetics · 2026Article
- 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
- A WHO 2021-based comprehensive scheme outlining sperm parameters' associations with IVF outcomes in PGT-A cycles.Andrology · 2025Article
- Review
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.bioRxiv : the preprint server for biology · 2025Article
- The chromosomal challenge of human embryos: Mechanisms and fundamentals.HGG advances · 2025Review
- Case report: re-biopsy rescues a to-be-discarded segmental aneuploid embryo resulting in a healthy pregnancy with normal prenatal testing results.Journal of assisted reproduction and genetics · 2025Article
- Assessing the Viability of Segmental Aneuploid Embryos: A Chromosomal Concordance Study of 175 Human Blastocysts.International journal of molecular sciences · 2025Article
- Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- The correlation between blastocyst morphological parameters and chromosomal euploidy, aneuploidy and other chromosomal abnormalities following pre-implantation genetic testing-a single center retrospective study.Archives of gynecology and obstetrics · 2025Article
- Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation.Human reproduction open · 2025Article
- Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).Journal of assisted reproduction and genetics · 2025Article
- Healthy live births achieved from embryos diagnosed as non-mosaic segmental aneuploid.Journal of assisted reproduction and genetics · 2024Article
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite next-generation sequencing, which now allows for the accurate detection of segmental aneuploidies from in vitro fertilization embryo biopsies, the origin and characteristics of these aneuploidies are still relatively unknown. Using a multifocal biopsy approach (four trophectoderms [TEs] and one inner cell mass [ICM] analyzed per blastocyst; n = 390), we determine the origin of the aneuploidy and the diagnostic predictive value of segmental aneuploidy detection in TE biopsies toward the ICM's chromosomal constitution. Contrary to the prevalent meiotic origin of whole-chromosome aneuploidies, we show that sub-chromosomal abnormalities in human blastocysts arise from mitotic errors in around 70% of cases. As a consequence, the positive-predictive value toward ICM configuration was significantly lower for segmental as compared to whole-chromosome aneuploidies (70.8% versus 97.18%, respectively). In order to enhance the clinical utility of reporting segmental findings in clinical TE biopsies, we have developed and clinically verified a risk stratification model based on a second TE biopsy confirmation and segmental length; this model can significantly improve the prediction of aneuploidy risk in the ICM in over 86% of clinical cases enrolled. In conclusion, we provide evidence of the predominant mitotic origin of segmental aneuploidies in preimplantation embryos and develop a risk stratification model that can help post-test genetic counseling and that facilitates the decision-making process on clinical utilization of these embryos.
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