ArticleMolecular human reproduction2010
SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH.
Article in Molecular human reproduction, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?Journal of assisted reproduction and genetics · 2016Pooled it
- Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.Journal of assisted reproduction and genetics · 2025Article
- Genomic aspects in reproductive medicine.Clinical and experimental reproductive medicine · 2024Article
- Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism.Reproduction & fertility · 2022Review
- Preimplantation genetic testing for aneuploidy (PGT-A)-a single-center experience.Journal of assisted reproduction and genetics · 2022Article
- Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study.Risk management and healthcare policy · 2021Article
- Review
- Genetic Counseling and Assisted Reproductive Technologies.Cold Spring Harbor perspectives in medicine · 2020Review
- Observational
- Past, Present, and Future Strategies for Enhanced Assessment of Embryo's Genome and Reproductive Competence in Women of Advanced Reproductive Age.Frontiers in endocrinology · 2019Review
- Preimplantation Genetic Screening with Spent Culture Medium/Blastocoel Fluid for in Vitro Fertilization.Scientific reports · 2018Article
- Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm.Trends in genetics : TIG · 2017Review
- Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities.Human reproduction (Oxford, England) · 2017Review
- Early human embryos are naturally aneuploid-can that be corrected?Journal of assisted reproduction and genetics · 2017Review
- Reanalysis of human blastocysts with different molecular genetic screening platforms reveals significant discordance in ploidy status.Journal of assisted reproduction and genetics · 2016Article
- Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management.Journal of assisted reproduction and genetics · 2016Review
- Prenatal and pre-implantation genetic diagnosis.Nature reviews. Genetics · 2016Review
- Developmental potential of clinically discarded human embryos and associated chromosomal analysis.Scientific reports · 2016Article
- Confirmation rates of array-CGH in day-3 embryo and blastocyst biopsies for preimplantation genetic screening.Journal of assisted reproduction and genetics · 2016Article
- A pilot proof-of-principle study to compare fresh and vitrified cycle preimplantation genetic screening by chromosome microarray and next generation sequencing.Molecular cytogenetics · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many studies estimate that chromosomal mosaicism within the cleavage-stage human embryo is high. However, comparison of two unique methods of aneuploidy screening of blastomeres within the same embryo has not been conducted and may indicate whether mosaicism has been overestimated due to technical inconsistency rather than the biological phenomena. The present study investigates the prevalence of chromosomal abnormality and mosaicism found with two different single cell aneuploidy screening techniques. Thirteen arrested cleavage-stage embryos were studied. Each was biopsied into individual cells (n = 160). The cells from each embryo were randomized into two groups. Those destined for FISH-based aneuploidy screening (n = 75) were fixed, one cell per slide. Cells for SNP microarray-based aneuploidy screening (n = 85) were put into individual tubes. Microarray was significantly more reliable (96%) than FISH (83%) for providing an interpretable result (P = 0.004). Markedly different results were obtained when comparing microarray and FISH results from individual embryos. Mosaicism was significantly less commonly observed by microarray (31%) than by FISH (100%) (P = 0.0005). Although FISH evaluated fewer chromosomes per cell and fewer cells per embryo, FISH still displayed significantly more unique genetic diagnoses per embryo (3.2 +/- 0.2) than microarray (1.3 +/- 0.2) (P < 0.0001). This is the first prospective, randomized, blinded and paired comparison between microarray and FISH-based aneuploidy screening. SNP microarray-based 24 chromosome aneuploidy screening provides more complete and consistent results than FISH. These results also suggest that FISH technology may overestimate the contribution of mitotic error to the origin of aneuploidy at the cleavage stage of human embryogenesis.
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