Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing

• DOI: 10.1186/s12864-022-09103-5
• Publication Date: 2023-01-02T14:03:23Z
• Authors: Qiuping Xia; Shenglan Li; Taoli Ding; Zhen Liu; Jiaqi Liu; Yanping Li; Huimin Zhu; Zhongyuan Yao
• Keywords: Nanopore

Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects. Preimplantation genetic testing (PGT) widely used to select euploid embryos for BRT carriers increase chance a healthy live birth. Several strategies can be distinguish carrier from those with normal karyotype; however, these techniques are time-consuming difficult implement in clinical laboratories. In this study, nanopore sequencing was performed two carriers, results were validated using next-generation sequencing-based method named, "Mapping Allele Resolved Carrier Status" (MaReCs).The breakpoints both accurately identified by accordance obtained MaReCs. More than non-balanced embryo patients. Amniocentesis revealed karyotypes, consistent findings MaReCs sequencing.Our suggest powerful strategy distinguishing non-translocation precisely localizing breakpoints, which essential PGT aids reducing propagation population.