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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Royan Institute (ACECR), Tehran
2025-01-01
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| Series: | International Journal of Fertility and Sterility |
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| author | 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 |
| author_facet | 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 |
| author_sort | Achmad Kemal Harzif |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3699acfe041540e8bd3d60c07591b6dc |
| institution | Kabale University |
| issn | 2008-076X 2008-0778 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Royan Institute (ACECR), Tehran |
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| series | International Journal of Fertility and Sterility |
| spelling | doaj-art-3699acfe041540e8bd3d60c07591b6dc2025-01-18T09:23:38ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782025-01-01191586310.22074/ijfs.2024.2018140.1592713391Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective StudyAchmad Kemal Harzif0Muhammad Ikhsan1Pritta Ameilia Iffanolida2Kresna Mutia3Budi Wiweko4R Muharam5Kanadi Sumapraja6Gita Pratama7Mila Maidarti8Vita Silvana9Amalia Shadrina10Irene Sinta Febriana11Nafi'atul Ummah12Aisyah Retno Puspawardani13Andon Hestiantoro14Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr.Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaHuman Reproduction, Infertility, and Family Planning Cluster, Indonesia Reproductive Medicine Research and Training Center, Faculty of Medicine, Universitas Indonesia, Jakarta, IndonesiaHuman Reproduction, Infertility, and Family Planning Cluster, Indonesia Reproductive Medicine Research and Training Center, Faculty of Medicine, Universitas Indonesia, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaHuman Reproduction, Infertility, and Family Planning Cluster, Indonesia Reproductive Medicine Research and Training Center, Faculty of Medicine, Universitas Indonesia, Jakarta, IndonesiaHuman Reproduction, Infertility, and Family Planning Cluster, Indonesia Reproductive Medicine Research and Training Center, Faculty of Medicine, Universitas Indonesia, Jakarta, IndonesiaReproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, IndonesiaBackground: 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.https://www.ijfs.ir/article_713391_bf966c56e8cb1048cb52c6f14ce5ed84.pdfblastocystin vitro fertilizationmosaicismnext-generation sequencingpreimplantation genetic testing |
| spellingShingle | 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 Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study International Journal of Fertility and Sterility blastocyst in vitro fertilization mosaicism next-generation sequencing preimplantation genetic testing |
| title | Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study |
| title_full | Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study |
| title_fullStr | Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study |
| title_full_unstemmed | Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study |
| title_short | Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study |
| title_sort | embryo mosaicism rate in national referral hospital of indonesia detected using next generation sequencing a retrospective study |
| topic | blastocyst in vitro fertilization mosaicism next-generation sequencing preimplantation genetic testing |
| url | https://www.ijfs.ir/article_713391_bf966c56e8cb1048cb52c6f14ce5ed84.pdf |
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