Received October 23, 2020
Accepted May 01, 2021

Purpose Although chromosomal heteromorphisms are commonly found in the general population, some researchers have suggested a correlation with higher rates of embryo aneuploidy. This study aimed to assess the rates of embryo aneuploidy in couples who carry a chromosome heteromorphism. Materials and Methods The study included couples who had G-banding karyotype testing and underwent an IVF/PGT-A cycle between January 2012 and March 2018. Participants were classified by couple karyotype: Group A: ≥1 patient reported to be a heterochromatic variant carrier; Group B: both partners reported to be “normal”. Rates of aneuploidy were assessed among groups. A multivariate regression analysis was performed to assess the relationship between heterochromatic variants and rates of embryo aneuploidy. Results Of the 946 couples analyzed, 48/946 (5.0%) reported to being a carrier of ≥1 heterochromatic variant. A total of 869 IVF/PGT-A cycles were included in the analysis (Group A: n=48; Group B: n=82). No significant difference was observed in embryo ploidy rates among groups. The presence of a heterochromatic chromosome variant did not associate with increased odds of aneuploidy (OR= 1.04, CI95% 0.85– 1.07; p=0.46). Finally, the gender of the heterochromatic variant carrier did not association with increased odds of aneuploidy (OR 1.02, CI95% 0.81-1.28, p=0.82). Conclusions Our study showed no association between parental heterochromatic chromosome variants and subsequent embryo aneuploidy rates. Ploidy rates do not appear to be negatively associated with couples when at least one patient is reported to be a carrier of a heterochromatic variant on karyotype.