ArticleReproductive biology and endocrinology : RB&E2019
Segmental aneuploidy in human blastocysts: a qualitative and quantitative overview.
Article in Reproductive biology and endocrinology : RB&E, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Asymmetric attrition and secondary chromosome destabilization after double-strand breaks in human embryonic development.Nature communications · 2026Article
- Sequencing platforms influence segmental aneuploidy and cumulative live birth rate: A single-center cohort study.Journal of assisted reproduction and genetics · 2026Article
- Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation.Human reproduction open · 2025Article
- Sex-specific DNA-replication in the early mammalian embryo.Nature communications · 2024Article
- Primary sex ratio in euploid embryos of consanguine couples after IVF/ICSI.Journal of assisted reproduction and genetics · 2024Article
- Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.The Journal of clinical investigation · 2024Article
- Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.Human reproduction open · 2024Article
- The effect of sperm DNA fragmentation on the incidence and origin of whole and segmental chromosomal aneuploidies in human embryos.Reproduction (Cambridge, England) · 2023Article
- Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples.Scientific reports · 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
- Preimplantation genetic testing for aneuploidy: The management of mosaic embryos.Clinical and experimental reproductive medicine · 2022Article
- Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism.Reproduction & fertility · 2022Review
- Preimplantation genetic testing for aneuploidy (PGT-A)-a single-center experience.Journal of assisted reproduction and genetics · 2022Article
- The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles.International journal of endocrinology · 2022Article
- Mitochondrial DNA Content May Not Be a Reliable Screening Biomarker for Live Birth After Single Euploid Blastocyst Transfer.Frontiers in endocrinology · 2021Article
- Review
- Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos.American journal of human genetics · 2020Article
- The model of "genetic compartments": a new insight into reproductive genetics.Journal of assisted reproduction and genetics · 2019Review
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Authors and funding
3 authors.
Funding
Abstract
backgroundMicroarray-based and next generation sequencing (NGS) technologies have revealed that segmental aneuploidy is frequently present in human oocytes, cleavage-stage embryos and blastocysts. However, very little research has analyzed the type, size, chromosomal distribution and topography of the chromosomal segments at the different stages of development.
methodsThis is a retrospective study of 822 PGT-A (preimplantation genetic test for aneuploidies) performed on trophectoderm samples from 3565 blastocysts biopsied between January 2016 and April 2017. The cycles in question had been initiated for varying clinical indications. Samples were analyzed by next generation sequencing-based technology. Segmental aneuploidies were evaluated when fragment size was > 5 Mb. Blastocysts presenting a single segmental aneuploidy (SSA), without any additional whole-chromosome gain/loss, were statistically analyzed for incidence, type, size and chromosomal emplacement. Segment sizes relative to the whole chromosome or arm (chromosome- and arm-ratios) were also studied.
results8.4% (299/3565) of blastocysts exhibited segmental aneuploidy for one or more chromosomes, some of which were associated with whole-chromosome aneuploidy while others were not. Nearly half of them (4.5%: 159/3565 of blastocysts) exhibited pure-SSA, meaning that a single chromosome was affected by a SSA. Segments were more frequent in medium-sized metacentric or submetacentric chromosomes and particularly in q-chrmosome arms, variables that were related to trophectoderm quality. SSA size was related to a greater extent to chromosome number and the arm affected than it was to SSA type. In absolute values (Mb), SSA size was larger in large chromosomes. However, the SSA:chromosome ratio was constant across all chromosomes and never exceeded 50% of the chromosome.
conclusionsSSA frequency is chromosome- and topographically dependent, and its incidence is not related to clinical or embryological factors, but rather to trophectoderm quality. SSA might be originated by chromosome instability in response to chromothripsis, bias introduced by the biopsy and/or iatrogenic effects.
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