P-721 Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing

Abstract Study question Analyze the concordance between nanopore sequencing and MaReCs to validate feasibility of in distinguishing normal embryos from carrier PGT-SR cycles. Summary answer Nanopore is a powerful strategy for accurately nontranslocation translocation precisely localizing breakpoints. What known already Balanced reciprocal (BRT) one most common chromosomal abnormalities that causes infertility, recurrent miscarriage, birth defects. Preimplantation genetic testing (PGT) widely used select euploid BRT carriers increase chance healthy live birth. Several strategies can be distinguish those with karyotype; however, these techniques are time-consuming difficult implement clinical laboratories. design, size, duration The Sequencing was performed on two pregnant patients conducted Mapping Allele Resolved Carrier Status” (MaReCs) cycles identify breakpoints year. Combined conventional ’results, amniocentesis karyotypes at 18–20 weeks gestation verify correctness Sequencing. Participants/materials, setting, methods A total 11 2 couple1 12 couple were tested simultaneously combination mate pair PCR breakpoint analysis, SNP array-based comprehensive chromosome screening (CCS), NGS following micro-dissecting junction region (Micro-Seq) embryos. based TGS couples. Lastly, test karyotypes. Main results role both identifed by accordance obtained using MaReCs. More than non-balanced embryo identified patients. Amniocentesis revealed karyotypes, consistent findings sequencing. Limitations, reasons caution One limitation it not possible Robertsonian or located gap regions human genome. In addition, high-molecular-weight genomic DNA large amounts peripheral blood samples would challenge PGT centers. Wider implications detects distinguishes translocation-free balanced diploid It superior short reads (NGS) detection breakpoints, which shows broad prospects applications blocking propagation population. Trial registration number Not applicable