Factors influencing the reproductive outcome of preimplantation genetic testing for monogenic disorders: a single-center retrospective cohort study

Abstract

Objective The objective of this study was to explore the factors influencing the cumulative live birth rate (CLBR) for couples undergoing preimplantation genetic testing for monogenic disorders (PGT-M). Methods This was a retrospective cohort study involving couples who underwent PGT-M at our center from January 2017 to December 2023. A multivariate logistic regression analysis was applied to explore the following factors that may influence CLBR per patient of PGT-M: female age, oocytes pick up (OPU) times, genetic category, COH protocol, number of oocytes retrieved/number of transferable embryos, sperm diagnosis, pathogenic gene source, and dosage of gonadotrophins (Gn). Results A total of 160 couples, 208 oocyte retrieval (OR) cycles, 193 PGT cycles met inclusionary criteria. Among them, 162 single embryo of 119 couples were transferred, resulting in a CLBR of 72.27% per patient and 67.44% per OR cycle. The logistic regression showed that female age (OR: 0.12, 95%CI: 0.02–0.73, P = 0.021), OPU times (OR: 0.27, 95%CI:0.08–0.90, P = 0.032), number of oocytes retrieved (OR: 14.28, 95%CI: 1.01-202.47, P = 0.049) and number of transferable embryos (OR: 10.52, 95%CI: 2.73–40.59, P < 0.001) were associated with CLBR per patient. Furthermore, our research innovatively suggested that the aneuploidy of embryos is not related to the genetic category of monogenic diseases (37% in AD vs 11% in XLD vs 33% in AR vs 41% in XLR, P > 0.05) and whether the embryo is affected or not (34% in unaffected embryos vs 44% in affected embryos, P > 0.05). Conclusion The CLBR per patient of PGT-M is significantly associated with female age, OPU times, number of oocytes retrieved / number of transferable embryos.