Extended application of PGT-M strategies for small pathogenic CNVs.
J Assist Reprod Genet
; 41(3): 739-750, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-38263474
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abortion, Spontaneous
/
Preimplantation Diagnosis
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
J Assist Reprod Genet
Journal subject:
GENETICA
/
MEDICINA REPRODUTIVA
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: