Lin Yang, Yan Xu, Jun Xia, Huijuan Yan, Chenhui Ding, Qianyu Shi, Yujing Wu, Ping Liu, Jiafu Pan, Yanhong Zeng, Yanyan Zhang, Fang Chen, Hui Jiang, Yanwen Xu, Wei Li, Canquan Zhou, Ya Gao
Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment. However, embryos tested by PGT-M have risks of harboring chromosomal aneuploidy. Hence, a universal method to detect monogenic diseases and genomic imbalances is required. Methods: Here, we report a novel PGT-A/M procedure allowing simultaneous detection of monogenic diseases and genomic imbalances in one experiment. Library was prepared in a special way that multiplex polymerase chain reaction (PCR) was integrated into the process of whole genome amplification...
2022: Frontiers in Genetics