Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study

Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalenceand inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavorsto assess the prevalence of mosaicism and its characteristics within...

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Main Authors: Achmad Kemal Harzif, Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Budi Wiweko, R Muharam, Kanadi Sumapraja, Gita Pratama, Mila Maidarti, Vita Silvana, Amalia Shadrina, Irene Sinta Febriana, Nafi'atul Ummah, Aisyah Retno Puspawardani, Andon Hestiantoro
Format: Article
Language:English
Published: Royan Institute (ACECR), Tehran 2025-01-01
Series:International Journal of Fertility and Sterility
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Online Access:https://www.ijfs.ir/article_713391_bf966c56e8cb1048cb52c6f14ce5ed84.pdf
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Summary:Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalenceand inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavorsto assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetictesting-A (PGT-A) services in Indonesia. Specifically focusing on our center’s experience since 2020, this study aimsto elucidate mosaic rates among embryos in our care.Materials and Methods: In a retrospective approach, we collected secondary data sourced from our PGT-A outcomesdating back to 2020. A total of 196 embryos underwent analysis, their characteristics were documented and presenteddescriptively. Notably, the incidence of specific chromosome abnormalities was outlined. We assess a comparativeanalysis to investigate the relationship between mosaicism and its corresponding clinical characteristics.Results: In the analysis of 196 embryos, 106 (54.1%) displayed chromosomal anomalies spanning from low-levelmosaicism to whole chromosome aneuploidy. Low mosaicism was observed in 25 (12.8%) of the embryos, while highmosaicism was identified in 8 (4.1%) embryos. Notably, low-level mosaicism predominated in chromosome 9 (n=10,5.1%), whereas abnormality prevalence was highest in chromosome 21 (n=20, 10.2%). Statistical analysis revealedno significant disparity in mean maternal age among embryos with low-level mosaicism, high mosaicism, and normalchromosomes (33.88 vs. 35 vs. 33.26 years old, respectively). However, a statistically significant difference inmean maternal age (35.84 vs. 33.26 years) was observed between embryos with aneuploidy (monosomy or trisomy)and those with normal chromosomes. Furthermore, a significant difference in high mosaicism rates was detected inpatients with unexplained infertility (P<0.05).Conclusion: In contrast to the study conducted elsewhere, our center had a higher mosaicism rate. Chromosomes 9,8, and 6 were the most frequently affected. There was a significant difference in the high mosaicism rate for PGT-Arelatedunexplained infertility causes.
ISSN:2008-076X
2008-0778