Xiao Hu, Weili Wang, Keli Luo, Jing Dai, Yi Zhang, Zhenxing Wan, Wenbin He, Shuoping Zhang, Lanlin Yang, Qin Tan, Wen Li, Qianjun Zhang, Fei Gong, Guangxiu Lu, Yue-Qiu Tan, Ge Lin, Juan Du
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...
January 24, 2024: Journal of Assisted Reproduction and Genetics