#365 : Characteristics of Embryo Mosaicism Detected Using Next-Generation Sequencing PGT-A

Fertility & Reproduction(2023)

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摘要
Background and Aims: Chromosomal mosaicism may occur in minority of embryos. Their commonality and uncertainty made the embryo mosaic rates vary from center to center. This study aims to evaluate the mosaicism rate and its characteristics during our Preimplantation Genetic Testing-A (PGT-A) service in Indonesia since 2020. Method: We collected secondary data from our PGT-A results retrospectively since 2020. There were 196 embryos analyzed and descriptively shown for its characteristic including which chromosome is the most prevalent. We also carried out associative analysis to assess mosaicism and its clinical condition. Results: From 196 embryos assessed, there were 106 (54.1%) embryos with chromosomal abnormality ranging from low mosaicism to whole chromosome aneuploidy. Low and high mosaicism rates were found in 25 (12.8%), 8 (4.1%) embryos, respectively. The most common chromosome affected by low mosaicism is chromosome 8 (9; 4.6%) and the most chromosome with abnormality found in chromosome 21 (20; 10.2%). There was no significant difference between mosaicism rate in the mean age (33.88 vs 33.26 years), but there was statistical significance difference in mean age (35.84 vs 33.26 years) for aneuploidy (monosomy or trisomy) compared to normal chromosome. For the clinical condition, we found only significant difference in high mosaicism rate for patient with indication for unknown etiology of infertility (p-value [Formula: see text]0.05%). Conclusion: The mosaicism rate found in our center is relatively high compared to studies conducted elsewhere. The most common chromosome affected is chromosome 8. There was a significant difference in high mosaicism rate for unknown infertility indication of PGT-A.
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