ArticleMolecular cytogenetics2014
Single cell segmental aneuploidy detection is compromised by S phase.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Mitigating Cell Cycle Effects in Multi-Omics Data: Solutions and Analytical Frameworks.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Healthy live births achieved from embryos diagnosed as non-mosaic segmental aneuploid.Journal of assisted reproduction and genetics · 2024Article
- Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing.International journal of molecular sciences · 2022Review
- 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
- Overview and recent developments in cell-based noninvasive prenatal testing.Prenatal diagnosis · 2021Review
- Review
- The mechanisms and clinical application of mosaicism in preimplantation embryos.Journal of assisted reproduction and genetics · 2020Review
- Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.Acta neuropathologica communications · 2019Article
- Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.American journal of human genetics · 2019Article
- Segmental aneuploidy in human blastocysts: a qualitative and quantitative overview.Reproductive biology and endocrinology : RB&E · 2019Article
- Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities.Human reproduction (Oxford, England) · 2017Review
- Preimplantation genetic diagnosis/screening by comprehensive molecular testing.Reproductive medicine and biology · 2016Review
- Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method.Scientific reports · 2015Article
- Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCarriers of balanced translocations are at high risk for unbalanced gametes which can result in recurrent miscarriages or birth defects. Preimplantation genetic diagnosis (PGD) is often offered to select balanced embryos. This selection is currently mainly performed by array CGH on blastomeres. Current methodology does not take into account the phase of the cell cycle, despite the variable copy number status of different genomic regions in S phase.
resultsCell lines derived from 3 patients with different chromosomal imbalances were used to evaluate the accuracy of single cell array CGH. The different cell cycle phases were sorted by flow cytometry and 10 single cells were picked per cell line per cell cycle phase, whole genome amplified and analyzed by BAC arrays, the most commonly used platform for PGD purposes. In contrast to G phase, where the imbalances were efficiently identified, less than half of the probes in the regions of interest indicated the presence of the aberration in 17 S-phase cells, resulting in reduced accuracy.
conclusionsThe results demonstrate that the accuracy to detect segmental chromosomal imbalances is reduced in S-phase cells, which could be a source of misdiagnosis in PGD. Hence, the cell cycle phase of the analyzed cell is of great importance and should be taken into account during the analysis. This knowledge may guide future technological improvements.
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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.