Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature

Abstract Background Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance a healthy live birth. However, limited knowledge known on data of PGT-SR when both parents have translocation. Here, we first time present rare instance non-consanguineous couple which carried an independent balanced and show how relevant counseling can be generated. Methods The precise breakpoints were identified by whole genome low-coverage sequencing (WGLCS) Sanger sequencing. Next-generation (NGS) combining breakpoint-specific polymerase chain reaction (PCR) was used define 24-chromosome carrier status euploid embryos. Results Surprisingly, 2 out 3 day-5 blastocysts found maternal while being normal paternal thus transferable. transferable embryo rate significantly higher than that would expected theoretically. Transfer one resulted birth boy. Conclusion(s) Our together systematic review literature should help providing carrying two different translocations undergoing more appropriate counseling.