ArticleJournal of assisted reproduction and genetics2020
The reproducibility of trophectoderm biopsies in euploid, aneuploid, and mosaic embryos using independently verified next-generation sequencing (NGS): a pilot study.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 4 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- 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
- PGT-A: who and when? Α systematic review and network meta-analysis of RCTs.Journal of assisted reproduction and genetics · 2021Pooled it
- Preimplantation Genetic Testing and Embryo Mosaicism: A Critical Narrative Review of Clinical Outcomes and Controversies.Obstetrics and gynecology international · 2026Review
- Maternal age is associated with apoptotic gene abundance patterns in blastocoel fluid-conditioned media from euploid embryos: a pilot study.Journal of assisted reproduction and genetics · 2025Article
- Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.Nature communications · 2024Article
- Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation?Genes · 2023Review
- PGT-A mosaicism based on NGS intermediate copy numbers: is it time to stop reporting them?Journal of assisted reproduction and genetics · 2023Article
- What proportion of embryos should be considered for transfer following a mosaic diagnosis? A study of 115 clinics from a central diagnostic laboratory.Journal of assisted reproduction and genetics · 2023Article
- The embryo non-invasive pre-implantation diagnosis era: how far are we?Animal reproduction · 2023Article
- On the reproductive capabilities of aneuploid human preimplantation embryos.American journal of human genetics · 2022Review
- Development of an artificial intelligence model for predicting the likelihood of human embryo euploidy based on blastocyst images from multiple imaging systems during IVF.Human reproduction (Oxford, England) · 2022Article
- Evaluating the application value of NGS-based PGT-A by screening cryopreserved MDA products of embryos from PGT-M cycles with known transfer outcomes.Journal of assisted reproduction and genetics · 2022Article
- Comparison of chromosomal status in reserved multiple displacement amplification products of embryos that resulted in miscarriages or live births: a blinded, nonselection case-control study.BMC medical genomics · 2022Article
- Article
- ESHRE survey results and good practice recommendations on managing chromosomal mosaicism.Human reproduction open · 2022Article
- From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.Journal of assisted reproduction and genetics · 2021Review
- Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.Prenatal diagnosis · 2021Article
- Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.Prenatal diagnosis · 2021Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess the accuracy and reliability of comprehensive chromosome screening by next-generation sequencing (NGS) of human trophectoderm (TE) biopsy specimens.
methodsThe reliability and accuracy of diagnoses made by preimplantation genetic testing for aneuploidy (PGT-A) from TE biopsy were tested. Repeat biopsies of TE and inner cell mass (ICM) samples were obtained from thawed blastocysts previously tested by NGS. To test for the reliability of the NGS assay, biopsy samples were compared with the original PGT-A results. Prior NGS testing classified the TE samples as euploid, aneuploid, or aneuploid-mosaic. The resulting re-biopsied samples underwent SurePlex whole genome amplification followed by NGS via the MiSeq platform, with copy number value (CNV) determined using BlueFuse Multi Software. The primary outcome measure was reliability, defined as concordance between initial TE result and the repeat biopsies. Accuracy was determined by concordance between the TE and ICM samples, and compared between three chromosome types (disomic, aneuploid, and mosaic).
resultsRe-biopsies were performed on 32 embryos with prior PGT-A showing euploidy (10 embryos), aneuploidy of one or two chromosomes (4 embryos), or aneuploid-mosaic with one aneuploid chromosome and one mosaic chromosome (18 embryos). One hundred twenty-nine biopsy samples completed NGS (90 TE and 39 ICM biopsies) and 105 biopsy results were included in the analysis. TE biopsies provide a highly accurate test of the future fetus, with the ICM disomic concordance rate of 97.6%. Clinical concordance rates indicate that TE biopsies provide a reliable test when the result is euploid (99.5%) or aneuploid (97.3%), but less reliable when the result is mosaic (35.2%).
conclusionTE biopsies predict euploidy or aneuploidy in the ICM with a high degree of accuracy. PGT-A with NGS of TE biopsies is shown to be highly reliable, with clinically relevant concordance rates for aneuploidy and euploidy over 95%. TE biopsies indicating mosaicism were less reliable (35.2%), presumably because mitotic non-disjunction events are not uniformly distributed throughout the blastocyst. However, classification of TE biopsy of PGT-A with NGS results as either aneuploid or euploid provides a highly reliable test.
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