ArticleNPJ genomic medicine2021
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 46 citations in OpenAlex.
- A large retrospective study on 1PN embryo transfer supports the need for updated harmonized best practice guidelines.Human reproduction (Oxford, England) · 2026Article
- 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
- Risk factors associated with meiotic errors in blastocysts with mosaic results on biopsy.Human reproduction open · 2026Article
- The chromosomal challenge of human embryos: Mechanisms and fundamentals.HGG advances · 2025Review
- Article
- Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation.Human reproduction open · 2025Article
- Chromosome architecture and low cohesion bias acrocentric chromosomes towards aneuploidy during mammalian meiosis.Nature communications · 2024Article
- Article
- Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos.Genome research · 2024Article
- Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection.Scientific reports · 2024Article
- Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.Human reproduction open · 2024Article
- Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.Nature medicine · 2023Article
- Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study.Journal of translational medicine · 2023Article
- Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos.Genome medicine · 2023Article
- Mapping of meiotic recombination in human preimplantation blastocysts.G3 (Bethesda, Md.) · 2023Article
- A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis.Frontiers in genetics · 2023Article
- Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.European journal of human genetics : EJHG · 2022Review
- Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts.Genome biology · 2022Article
- Review
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 4 countries.
Funding
Abstract
Chromosome instability is inherent to human IVF embryos, but the full spectrum and developmental fate of chromosome anomalies remain uncharacterized. Using haplotyping-based preimplantation genetic testing for monogenic diseases (PGT-M), we mapped the parental and mechanistic origin of common and rare genomic abnormalities in 2300 cleavage stage and 361 trophectoderm biopsies. We show that while single whole chromosome aneuploidy arises due to chromosome-specific meiotic errors in the oocyte, segmental imbalances predominantly affect paternal chromosomes, implicating sperm DNA damage in segmental aneuploidy formation. We also show that postzygotic aneuploidy affects multiple chromosomes across the genome and does not discriminate between parental homologs. In addition, 6% of cleavage stage embryos demonstrated signatures of tripolar cell division with excessive chromosome loss, however hypodiploid blastomeres can be excluded from further embryo development. This observation supports the selective-pressure hypothesis in embryos. Finally, considering that ploidy violations may constitute a significant proportion of non-viable embryos, using haplotyping-based approach to map these events might further improve IVF success rate.
Identifiers
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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.