ArticleHuman genomics2020
Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy.
Article in Human genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 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
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- A prospective study of non-invasive prenatal screening technology in preimplantation genetic testing cycles.Frontiers in medicine · 2026Article
- Biopsy vs comprehensive embryo/blastocyst analysis: a closer look at embryonic chromosome evaluation.Human reproduction open · 2025Article
- Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview.Journal of clinical medicine · 2024Review
- Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?BMC pregnancy and childbirth · 2024Article
- Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.Reproductive biology and endocrinology : RB&E · 2022Article
- From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.Journal of assisted reproduction and genetics · 2021Review
- Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos.Journal of developmental biology · 2021Review
- Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.Prenatal diagnosis · 2021Review
- Diagnostic efficiency of blastocyst culture medium in noninvasive preimplantation genetic testing.F&S reports · 2021Article
- Article
- Review
- Embryonic Cell-free DNA in Spent Culture Medium: A Non-invasive Tool for Aneuploidy Screening of the Corresponding Embryos.In vivo (Athens, Greece)Article
- A novel system based on artificial intelligence for predicting blastocyst viability and visualizing the explanation.Reproductive medicine and biologyArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo compare the concordance between trophectoderm (TE) analysis and whole blastocyst analysis of embryos from chromosomal structural rearrangement (SR) carriers.
methodSixty-three abnormal blastocysts identified by preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) were included. The whole blastocysts were processed through multiple displacement amplification cycle and sequenced for 24-chromosome aneuploidy screening by next-generation sequencing (NGS). The sequencing results were compared with those of TE biopsy from the same blastocysts and the primary chromosomal rearrangement of the couples.
resultsAnalysis of the 63 blastocysts showed 68% (43/63) complete concordance between TE sequencing analysis and whole blastocyst results. Approximately one third (20/63, 32%) of the sequencing results showed some level of discordance between the two samples. Of these, 14% (9/63) of the embryos were identified as euploid after whole blastocyst sequencing. Among them, seven blastocysts were classified as chromosome mosaicism (five whole chromosomes, two segmental) after TE analysis, while two displayed non-SR related segmental changes in the TE biopsy. Of the original analyses, 70% (44/63) of findings were associated with the primary parental chromosomal rearrangement, while 30% (19/63) had no association.
conclusionsTE biopsy with NGS for PGT-SR is an efficient strategy to identify embryos suitable for transfer. While there was a high concordance between TE and whole blastocyst chromosome results, some embryos classified as mosaic in the original analysis and therefore unsuitable for transfer were reclassified as chromosomally balanced. To maximize the number of embryos available for PGT-SR patients, we suggest that embryos with mosaic non-SR chromosomal rearrangement should be stored and considered for transfer after appropriate counseling.
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