ArticleHuman reproduction (Oxford, England)2010
Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol.
Article in Human reproduction (Oxford, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 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.
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
84 citing papers in PubMed, 1 synthesis or guideline pooled it, 278 citations in OpenAlex.
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- The number of biopsied trophectoderm cells may affect pregnancy outcomes.Journal of assisted reproduction and genetics · 2019Trial
- Replacing single frozen-thawed euploid embryos in a natural cycle in ovulatory women may increase live birth rates compared to medicated cycles in anovulatory women.Journal of assisted reproduction and genetics · 2017Trial
- Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study.BMC medical genomics · 2015Trial
- Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.Prenatal diagnosis · 2012Trial
- The role of sperm DNA fragmentation testing in predicting IVF and PGT-A outcomes.Scientific reports · 2026Article
- Rates of unbalanced chromosome rearrangements associated with pericentric and paracentric inversions: Analysis of molecular chromosome results in embryo samples.Genetics in medicine open · 2026Article
- Correlation between AMH levels and embryonic aneuploidy rate in PGT-A patients: a retrospective study.Journal of assisted reproduction and genetics · 2025Article
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing.European journal of human genetics : EJHG · 2025Article
- Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development.Journal of assisted reproduction and genetics · 2024Review
- Insights into embryonic chromosomal instability: mechanisms of DNA elimination during mammalian preimplantation development.Frontiers in cell and developmental biology · 2024Review
- The Clinical Significance of Embryonic Chromosomal Errors in Recurrent Pregnancy Loss: an Analysis of 1107 Miscarriages.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- Early noninvasive prenatal paternity testing by targeted fetal DNA analysis.Scientific reports · 2023Article
- Preimplantation genetic testing for aneuploidy: The management of mosaic embryos.Clinical and experimental reproductive medicine · 2022Article
- Reduced sister chromatid cohesion acts as a tumor penetrance modifier.PLoS genetics · 2022Article
- Haplotype-aware inference of human chromosome abnormalities.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- SureTypeSCR: R package for rapid quality control and genotyping of SNP arrays from single cells.F1000Research · 2021Article
- Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory's Experience.American journal of nephrology · 2021Article
- Next-generation sequencing analysis of each blastomere in good-quality embryos: insights into the origins and mechanisms of embryonic aneuploidy in cleavage-stage embryos.Journal of assisted reproduction and genetics · 2020Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundPreimplantation genetic screening (PGS) has been used in an attempt to determine embryonic aneuploidy. Techniques that use new molecular methods to determine the karyotype of an embryo are expanding the scope of PGS.
methodsWe introduce a new method for PGS, termed 'parental support', which leverages microarray measurements from parental DNA to 'clean' single-cell microarray measurements on embryonic cells and explicitly computes confidence in each copy number call. The method distinguishes mitotic and meiotic copy errors and determines parental source of aneuploidy.
resultsValidation with 459 single cells of known karyotype indicated that per-cell false-positive and false-negative rates are roughly equivalent to the 'gold standard' metaphase karyotype. The majority of the cells were run in parallel with a clinical commercial PGS service. Computed confidences were conservative and roughly concordant with accuracy. To examine ploidy in human embryos, the method was then applied to 26 disaggregated, cryopreserved, cleavage-stage embryos for a total of 134 single blastomeres. Only 23.1% of the embryos were euploid, though 46.2% of embryos were mosaic euploid. Mosaicism affected 57.7% of the embryos. Counts of mitotic and meiotic errors were roughly equivalent. Maternal meiotic trisomy predominated over paternal trisomy, and maternal meiotic trisomies were negatively predictive of mosaic euploid embryos.
conclusionsWe have performed a major preclinical validation of a new method for PGS and found that the technology performs approximately as well as a metaphase karyotype. We also directly measured the mechanism of aneuploidy in cleavage-stage human embryos and found high rates and distinct patterns of mitotic and meiotic aneuploidy.
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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.