ReviewJournal of assisted reproduction and genetics2016
Human embryo mosaicism: did we drop the ball on chromosomal testing?
Review in Journal of assisted reproduction and genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- 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
- 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
- Initially categorized 46,XY embryo transfer ending with 45,X products of conception-a case report and a review of discordant result management.F&S reports · 2024Article
- Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases.Journal of clinical medicine · 2024Article
- Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview.Journal of clinical medicine · 2024Review
- PGT-A is associated with reduced cumulative live birth rate in first reported IVF stimulation cycles age ≤ 40: an analysis of 133,494 autologous cycles reported to SART CORS.Journal of assisted reproduction and genetics · 2023Article
- Order from chaos: a case report of a healthy live birth from a genetically "chaotic" embryo.F&S reports · 2022Article
- Article
- From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.Journal of assisted reproduction and genetics · 2021Review
- End-to-end deep learning for recognition of ploidy status using time-lapse videos.Journal of assisted reproduction and genetics · 2021Article
- Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model.Life (Basel, Switzerland) · 2021Article
- Diagnostic efficiency of blastocyst culture medium in noninvasive preimplantation genetic testing.F&S reports · 2021Article
- Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies.Molecular human reproduction · 2020Article
- Morphokinetic parameters from a time-lapse monitoring system cannot accurately predict the ploidy of embryos.Journal of assisted reproduction and genetics · 2017Article
- Mosaicism: throwing the baby out with the bath water?Journal of assisted reproduction and genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are newly recognized challenges presented by the occurrence of mosaicism in the context of trophectoderm (TE) biopsy for pre-implantation genetic screening (PGS) in in vitro fertilization (IVF) embryos. Chromosomal mosaicism, known to be significantly higher in IVF embryos than in later prenatal samples, may contribute to errors in diagnosis. In particular, PGS may result in discarding embryos diagnosed as aneuploid but in which the inner cell mass may be completely or mainly euploid, thus representing a false positive diagnosis. Although less likely, some embryos diagnosed as euploid could be mosaic and contain some aneuploid cells, possibly impacting their implantation potential. The ability of current diagnostic techniques to detect mosaicism is limited by the number and location of TE cells in the biopsy and by the methodology used for chromosomal assessment. The clinical consequences of mosaicism are dependent on the chromosome(s) involved, the developmental stage at which the mosaicism evolved, and whether TE biopsy accurately reflects the status of the inner cell mass that forms the fetus. Consequently, in patients with no euploid embryos identified on PGS, it may be appropriate to consider the transfer of diagnosed aneuploid embryos if the TE biopsy result is a non-viable chromosomal monosomy or triploidy that could not result in a birth. It should be acknowledged in consent forms that mosaicism has the potential to impact test results and that its detection may be below the resolution of the genetic tests being used. This concept represents a major shift in current IVF practice and ought to be considered given the data, or lack thereof, of the impact of mosaicism on IVF/PGS outcomes.
Indexed as
Identifiers
What OpenQuestion holds
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.