Purpose The aim of this study was to evaluate the incidence of an inter-chromosomal effect (ICE) in blastocyst-stage embryos from carriers of balanced chromosome inversions. Methods Infertility patients (n = 52) with balanced inversions (n = 66 cycles), and maternal age-matched controls that concurrently cycled (n = 66), consented to an IVF cycle with preimplantation genetic testing for aneuploidy (PGT-A). Blastocyst-stage embryos underwent trophectoderm biopsy for PGT-A with only euploid blastocysts transferred in a subsequent frozen embryo transfer. Subtypes of inversions were included in aggregate: paracentric/pericentric, polymorphic/non-polymorphic, male/female carriers, and varying inversion sizes. Results The incidence of aneuploidy was not significantly higher for the inversion patients compared to the controls (inversion = 48.8% vs. control = 47.2% ns). Following euploid blastocyst transfer, there were excellent live birth outcomes. Conclusions Carriers of balanced chromosome inversions did not exhibit higher aneuploidy rates for chromosomes that were not involved in the inversion compared to maternal age-matched controls, signifying the absence of an inter-chromosomal effect for this data set. These results provide the largest investigation of blastocyst embryos regarding the debated existence of an ICE resulting from the presence of an inversion during meiosis. However, further studies are warranted to investigate an ICE among inversions subtypes that were outside the scope of this study.
settings (56%). The majority of respondents (76%) routinely recommended ECS to patients. Eighty five percent of respondents believed that all patients should be offered ECS, ideally prior to pregnancy. ECS knowledge base was not influenced by provider age or years from training. Compared to providers in an academic setting, providers in the private setting were more likely to know the correct technology used for ECS (82.6% vs. 61.1%, p¼0.12) and the number of diseases screened (91.3% vs. 66.7%, p¼0.04). Compared to generalists, subspecialists were also more likely to answer these questions correctly (81.8% vs. 70%, p¼0.44; 100% vs. 76.7%, p¼0.07). The top 3 concerns limiting the use of ECS were time spent on counseling patients about results (56%), financial burden to patients (54%), and time spent on following up on patient results (44%). If both a patient and her partner screened positive, 61% would refer to a genetic counselor (GC), while 24% would refer to a reproductive endocrinologist. CONCLUSIONS: Many OB/GYNs are knowledgeable about the benefits and limitations of ECS and routinely offer ECS to patients. However, this study demonstrates a need for additional resources to ensure that concerns and knowledge gaps are appropriately addressed, and highlights a critical role for GCs as physician educators. ECS has the potential to prevent transmission of deleterious mutations to the next generation, provided that OB/ GYNs, GCs, and sub-specialists are engaged in this effort.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.