Preimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study

通过全基因组 SNP 基因分型和单倍型分析进行植入前结构重排基因检测:一项前瞻性多中心临床研究

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作者:Shuo Zhang, Yuan Gao, Xiaohong Wang, Qing Li, Jichun Tan, Bo Liang, Ming Gao, Junping Wu, Xiufeng Ling, Jiayin Liu, Xiaoming Teng, Hong Li, Yun Sun, Weidong Huang, Xianhong Tong, Caixia Lei, Hongchang Li, Jun Wang, Shaoying Li, Xiaoyan Xu, Junqiang Zhang, Wei Wu, Shanshan Liang, Jian Ou, Qiongzhen Z

Background

Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) has been widely utilized to select euploid embryos in patients carrying balanced chromosomal rearrangements (BCRs) by chromosome copy number analysis. However, reliable and extensively validated PGT-SR

Methods

In this prospective, multicenter, cohort study, carriers with BCRs undergoing PGT-SR were recruited across 12 academic fertility centers within China. PGT-SR was performed using genome-wide SNP genotyping and haplotyping approach. Parental haplotypes were phased by available genotypes from a close relative or an unbalanced embryo. The karyotypes of embryos were inferred from the haplotypes. Only a single embryo was transferred in each cycle. Findings: Between April 2018 and March 2023, 1298 carriers we randomly enrolled. A total of 7867 blastocysts from 1603 PGT-SR cycles were biopsied, in which 7750 (98.51%) were successfully genotyped and analyzed. Overall, 75.98% (1218/1603) of cycles obtained euploid embryos and 53.15% (852/1603) generated non-carrier embryos. The proportion of carrier and non-carrier embryos was similar in different subgroups. A total of 1030 non-carrier and 439 carrier embryos were transferred, 817 healthy babies were delivered cumulatively. Our

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