ArticleMolecular human reproduction2020
Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies.
Article in Molecular human reproduction, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 58 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
- The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- Fertilization time and oocyte spindle integrity: implication for embryo ploidy.Reproduction & fertility · 2026Article
- Influencing factors and clinical significance of mosaic embryos in preimplantation genetic testing.Journal of assisted reproduction and genetics · 2026Article
- Exploring the increasing aneuploidy stress effects on embryo morphokinetic development: non-linear and stage-specific disruption in developmental timing.Journal of assisted reproduction and genetics · 2026Article
- Review
- Re-biopsy and modified biopsy in mosaic human embryos with simple segmental chromosomal deletion.Reproductive biology and endocrinology : RB&E · 2025Article
- Article
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.Genetics · 2025Article
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.bioRxiv : the preprint server for biology · 2025Article
- 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
- 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
- Healthy live births achieved from embryos diagnosed as non-mosaic segmental aneuploid.Journal of assisted reproduction and genetics · 2024Article
- Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.Journal of clinical medicine · 2024Article
- Conventional IVF is feasible in preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2023Article
- Comparison of euploid blastocyst expansion with subgroups of single chromosome, multiple chromosome, and segmental aneuploids using an AI platform from donor egg embryos.Journal of assisted reproduction and genetics · 2023Observational
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal mosaicism detected during preimplantation genetic testing for aneuploidy (PGT-A) and its impact on embryo implantation have been widely discussed, and healthy live births from mosaic embryos were reported by many groups. On the other hand, only very few studies have focused on segmental chromosome aneuploidies and their clinical impact. Eighty-nine embryos with various PGT-A results (trophectoderm 1: TE1) were re-analysed using a second trophectoderm biopsy (TE2) and the rest of the embryo (RE) for testing. Of 19 euploid TE1 biopsies, 18 were concordant across TE2 and RE. Similarly, whole chromosomal aneuploidies were concordant in 59 of 62 TE1-TE2 and 58 TE1-RE. In contrast, from 31 segmental aneuploidies detected in TE1, only 15 were observed again in TE2 and 14 in RE. If a TE1 segmental abnormality appeared again in TE2, it was almost always present in RE (17/18) as well. Moreover, when a TE1 segmental abnormality was not detected in TE2, in 12 out of 13 cases RE was also unaffected. Similarly, only 1 of 26 TE1 whole chromosome mosaics were repeated in TE2 and 7 in RE. Our study confirms that euploid and whole chromosomal aneuploidy results are highly predictive of the embryo. In contrast, mosaicism has a very low concordance rate. Most importantly, re-biopsy of embryos with segmental aneuploidies demonstrated that they are mostly not uniform across the embryo. Finally, in the case of segmental aneuploidy, the second biopsy enables an accurate prediction of the real status of the embryo and could be offered to patients undergoing PGT-A.
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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.