Detection of Structural Rearrangements in Embryos

This study evaluated the use of MinION long-read nanopore sequencing for preimplantation genetic testing for structural rearrangements (PGT-SR) in embryos from 11 couples with balanced chromosomal rearrangements (BCRs). The method successfully identified breakpoints in all BCR carriers and distinguished between euploid embryos carrying BCRs (41%) and non-carriers (59%) among 27 viable blastocysts. The approach combined karyotype-guided long read sequencing with custom breakpoint PCR and Sanger sequencing, enabling precise detection of cryptic imbalances and complex rearrangements. This technique offers a cost effective, rapid alternative to traditional PGT-SR methods, potentially preventing vertical transmission of BCRs to offspring.

This study evaluated the use of MinION long-read nanopore sequencing for preimplantation genetic testing for structural rearrangements (PGT-SR) in embryos from 11 couples with balanced chromosomal rearrangements (BCRs). The method successfully identified breakpoints in all BCR carriers and distinguished between euploid embryos carrying BCRs (41%) and non-carriers (59%) among 27 viable blastocysts. The approach combined karyotype-guided long read sequencing with custom breakpoint PCR and Sanger sequencing, enabling precise detection of cryptic imbalances and complex rearrangements. This technique offers a cost effective, rapid alternative to traditional PGT-SR methods, potentially preventing vertical transmission of BCRs to offspring.