Chromosome constitution of equal-sized three-cell embryos using next-generation sequencing technology

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Using next-generation sequencing, this study found that most equal-sized three-cell embryos were mosaic or aneuploid and could not be distinguished from euploid ones by morphological parameters like radius or volume.

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Abstract

PURPOSE: To study the chromosome constitution of equal-sized three-cell embryo. METHODS: We determined the chromosome constitution of 105 blastomeres from 35 embryos using multiple annealing and looping-based amplification cycles (MALBAC) together with NGS sequencing technology. Chromosomal copy number variation (CNV) analysis was successfully performed in 27 embryos. We also analyzed radius, perimeter, area, and volume of each blastomere to explore the possibility of selecting the normal embryos. RESULTS: Majority of the embryos (77.8%, 21/27) studied were mosaic or aneuploid, and only 22.2% (6/27) had normal chromosome numbers. The aneuploid chromosomes spread across all chromosomes and the most frequent aneuploidies were for chromosomes 1, 16, and 18 followed by 13, 19, and 21. Statistical analyses showed no significant difference between euploid and aneuploid embryos regarding radius, perimeter, area, and volume of their blastomeres. CONCLUSIONS: Our results showed that majority of the equal-sized three-cell embryos were chromosomally abnormal and could not be distinguished by morphology observation, so they should be given lower priority at selection for transfer.

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MeSH descriptors

Chromosome Duplication Chromosomes DNA Copy Number Variations Embryonic Development Aneuploidy Blastomeres Blastomeres Chromosome Duplication Chromosomes DNA Copy Number Variations Embryo, Mammalian Embryonic Development Embryo Transfer Embryo Transfer Female High-Throughput Nucleotide Sequencing Humans Mosaicism Pregnancy Preimplantation Diagnosis

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europepmc
last seen: 2026-10-18T09:30:06.152893+00:00
pubmed
last seen: 2026-10-08T21:23:25.915063+00:00