Bionano Genomics (BNGO) announced publication of a case study from the Shenzhen Maternity and Child Healthcare Hospital, China, demonstrating the application of optical genome mapping in a protocol for preimplantation genetic testing for structural rearrangements. In-vitro fertilization and the PGT-SR protocol, which included OGM, led to selection of the presumed most viable embryos, resulting in a viable pregnancy and the birth of a healthy baby to a couple experiencing years of recurrent pregnancy loss. The couple had experienced years of RPL due, presumably, to complex chromosomal rearrangements identified in the male partner. OGM revealed previously undetected CCRs in the male that traditional cytogenetic methods had missed. The OGM findings helped to inform embryo selection to identify and transfer the presumed most viable embryo, which resulted in pregnancy. Prenatal testing during the pregnancy confirmed a normal karyotype, and the pregnancy went to full term and live birth with the couple welcoming a healthy baby. Erik Holmlin, CEO, commented, “This case study suggests that OGM could play a role in helping people experiencing infertility or RPL achieve their dreams of parenthood. RPL affects millions of people worldwide and infertility affects 1 in 6 couples, so this research could be a significant breakthrough. We couldn’t be prouder to have OGM be a part of this successful pregnancy and healthy live birth.”
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