Extended application of PGT-M strategies for small pathogenic CNVs
© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature..
PURPOSE: The preimplantation genetic testing for aneuploidy (PGT-A) platform is not currently available for small copy-number variants (CNVs), especially those < 1 Mb. Through strategies used in PGT for monogenic disease (PGT-M), this study intended to perform PGT for families with small pathogenic CNVs.
METHODS: Couples who carried small pathogenic CNVs and underwent PGT at the Reproductive and Genetic Hospital of CITIC-Xiangya (Hunan, China) between November 2019 and April 2023 were included in this study. Haplotype analysis was performed through two platforms (targeted sequencing and whole-genome arrays) to identify the unaffected embryos, which were subjected to transplantation. Prenatal diagnosis using amniotic fluid was performed during 18-20 weeks of pregnancy.
RESULTS: PGT was successfully performed for 20 small CNVs (15 microdeletions and 5 microduplications) in 20 families. These CNVs distributed on chromosomes 1, 2, 6, 7, 13, 15, 16, and X with sizes ranging from 57 to 2120 kb. Three haplotyping-based PGT-M strategies were applied. A total of 89 embryos were identified in 25 PGT cycles for the 20 families. The diagnostic yield was 98.9% (88/89). Nineteen transfers were performed for 17 women, resulting in a 78.9% (15/19) clinical pregnancy rate after each transplantation. Of the nine women who had healthy babies, eight accepted prenatal diagnosis and the results showed no related pathogenic CNVs.
CONCLUSION: Our results show that the extended haplotyping-based PGT-M strategy application for small pathogenic CNVs compensated for the insufficient resolution of PGT-A. These three PGT-M strategies could be applied to couples with small pathogenic CNVs.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:41 |
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| Enthalten in: |
Journal of assisted reproduction and genetics - 41(2024), 3 vom: 05. März, Seite 739-750 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Hu, Xiao [VerfasserIn] |
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| Links: |
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| Themen: |
Copy-number variants (CNVs) |
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| Anmerkungen: |
Date Completed 22.03.2024 Date Revised 24.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1007/s10815-024-03028-6 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a © 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. | ||
| 520 | |a PURPOSE: The preimplantation genetic testing for aneuploidy (PGT-A) platform is not currently available for small copy-number variants (CNVs), especially those < 1 Mb. Through strategies used in PGT for monogenic disease (PGT-M), this study intended to perform PGT for families with small pathogenic CNVs | ||
| 520 | |a METHODS: Couples who carried small pathogenic CNVs and underwent PGT at the Reproductive and Genetic Hospital of CITIC-Xiangya (Hunan, China) between November 2019 and April 2023 were included in this study. Haplotype analysis was performed through two platforms (targeted sequencing and whole-genome arrays) to identify the unaffected embryos, which were subjected to transplantation. Prenatal diagnosis using amniotic fluid was performed during 18-20 weeks of pregnancy | ||
| 520 | |a RESULTS: PGT was successfully performed for 20 small CNVs (15 microdeletions and 5 microduplications) in 20 families. These CNVs distributed on chromosomes 1, 2, 6, 7, 13, 15, 16, and X with sizes ranging from 57 to 2120 kb. Three haplotyping-based PGT-M strategies were applied. A total of 89 embryos were identified in 25 PGT cycles for the 20 families. The diagnostic yield was 98.9% (88/89). Nineteen transfers were performed for 17 women, resulting in a 78.9% (15/19) clinical pregnancy rate after each transplantation. Of the nine women who had healthy babies, eight accepted prenatal diagnosis and the results showed no related pathogenic CNVs | ||
| 520 | |a CONCLUSION: Our results show that the extended haplotyping-based PGT-M strategy application for small pathogenic CNVs compensated for the insufficient resolution of PGT-A. These three PGT-M strategies could be applied to couples with small pathogenic CNVs | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Copy-number variants (CNVs) | |
| 650 | 4 | |a Microdeletion | |
| 650 | 4 | |a Microduplication | |
| 650 | 4 | |a Preimplantation genetic testing (PGT) | |
| 650 | 4 | |a Single-nucleotide polymorphism (SNP) | |
| 700 | 1 | |a Wang, Weili |e verfasserin |4 aut | |
| 700 | 1 | |a Luo, Keli |e verfasserin |4 aut | |
| 700 | 1 | |a Dai, Jing |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Yi |e verfasserin |4 aut | |
| 700 | 1 | |a Wan, Zhenxing |e verfasserin |4 aut | |
| 700 | 1 | |a He, Wenbin |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Shuoping |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Lanlin |e verfasserin |4 aut | |
| 700 | 1 | |a Tan, Qin |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Wen |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Qianjun |e verfasserin |4 aut | |
| 700 | 1 | |a Gong, Fei |e verfasserin |4 aut | |
| 700 | 1 | |a Lu, Guangxiu |e verfasserin |4 aut | |
| 700 | 1 | |a Tan, Yue-Qiu |e verfasserin |4 aut | |
| 700 | 1 | |a Lin, Ge |e verfasserin |4 aut | |
| 700 | 1 | |a Du, Juan |e verfasserin |4 aut | |
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