ReviewReproductive biology and endocrinology : RB&E2023
Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as "mosaic" as well as "aneuploid" designated embryos.
Review in Reproductive biology and endocrinology : RB&E, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis 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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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 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
- One Embryology: impactful connections between human- and wildlife-assisted reproduction.Journal of assisted reproduction and genetics · 2026Review
- Preimplantation Genetic Testing and Embryo Mosaicism: A Critical Narrative Review of Clinical Outcomes and Controversies.Obstetrics and gynecology international · 2026Review
- Case Report: Discordant genetic findings in miscarriage tissue following transfer of euploid embryos.Frontiers in reproductive health · 2026Article
- Ploidy and Implantation Potential: Non-Invasive Small Non-Coding RNA-Based Health Assessment of Day 5 and 6 Blastocysts.International journal of molecular sciences · 2025Article
- The chromosomal challenge of human embryos: Mechanisms and fundamentals.HGG advances · 2025Review
- Assessing the Viability of Segmental Aneuploid Embryos: A Chromosomal Concordance Study of 175 Human Blastocysts.International journal of molecular sciences · 2025Article
- Trophectoderm Biopsy: Present State of the Art.Genes · 2025Review
- Greater PGT-A utilization in IVF clinics does not improve live birth rates but relates to IVF center ownership: a preliminary report.Journal of assisted reproduction and genetics · 2025Article
- PGT-A: what's it for, what's wrong?Journal of assisted reproduction and genetics · 2025Article
- Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.Nature communications · 2024Article
- A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.BMC medical genomics · 2024Article
- Embryo and fetal gene editing: Technical challenges and progress toward clinical applications.Molecular therapy. Methods & clinical development · 2024Review
- Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection.Scientific reports · 2024Article
- Embryo drop-out rates in preimplantation genetic testing for aneuploidy (PGT-A): a retrospective data analysis from the DoLoRes study.Journal of assisted reproduction and genetics · 2024Article
- PGT-A mosaicism based on NGS intermediate copy numbers: is it time to stop reporting them?Journal of assisted reproduction and genetics · 2023Article
- From the Understanding of Maternal Molecules and Mechanisms to Predicting Embryonic Development.Reproductive medicine and biologyReview
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAfter the longest time opposing all transfers of embryos by preimplantation genetic testing for aneuploidy (PGT-A) diagnosed as "chromosomal-abnormal," the field has over recent years slowly been moving toward selective transfers of by PGT-A as "mosaic" diagnosed embryos, but is still rejecting transfers of embryos by PGT-A defined as "aneuploid."
methodsUpon review of the literature, we report published cases of euploid pregnancies following transfers of PGT-A as "aneuploid" diagnosed embryos and add several additional, ongoing cases at our center.
resultsAmong the published cases from our center, we identified seven euploid pregnancies from "aneuploid" embryos, four of which preceded the PGT-A industry's 2016 switch from binary "euploid" - "aneuploid" reporting to "euploid," "mosaic," and "aneuploid" reporting. That those four cases post 2016 PGT-A definition involving "mosaic" embryos, therefore, cannot be ruled out. Since then, we recently established three additional ongoing pregnancies from transfers of "aneuploid" embryos which still await confirmation of euploidy after delivery. A recent fourth pregnancy from the transfer of a trisomy 9 embryo miscarried before a fetal heart. Outside our own center's experience, the literature revealed only one additional such transfer, involving PGT-A as a "chaotic-aneuploid" diagnosed embryo with six abnormalities, leading to normal euploid delivery. In reviewing the literature, we furthermore demonstrate why current PGT-A reporting that differentiates between "mosaic" and "aneuploid" embryos based on relative percentages of euploid and aneuploid DNA in a single trophectoderm biopsy of on average 5-6 cells, is biologically non-sensical.
conclusionBasic biological evidence and a clinically still very limited experience with transfers of PGT-A as "aneuploid" labeled embryos demonstrate beyond reasonable doubt that at least some "aneuploid" embryos can lead to healthy euploid births. Therefore, this observation establishes beyond reasonable doubt that the rejection of all "aneuploid" embryos from transfer reduces pregnancy and live birth chances for IVF patients. Whether (and to what possible degree) pregnancy and live birth chances differ between "mosaic" and "aneuploid" embryos, remains to be determined. The answer will likely depend on the aneuploidy(ies) of an embryo and to what degree percentages of "mosaicism" in a single, on average 5/6-cell trophectoderm biopsy can reflect the ploidy-status of a complete embryo.
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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.