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Extended application of PGT-M strategies for small pathogenic CNVs.
- Source :
-
Journal of Assisted Reproduction & Genetics . Mar2024, Vol. 41 Issue 3, p739-750. 12p. - Publication Year :
- 2024
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10580468
- Volume :
- 41
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Journal of Assisted Reproduction & Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 176223440
- Full Text :
- https://doi.org/10.1007/s10815-024-03028-6