Parental chromosomal heteromorphisms are not associated with an increased risk of embryo aneuploidy

Carlos Hernandez-Nieto, Sonia Gayete-Lafuente, Tamar Alkon-Meadows, Joseph Lee, Martha Luna-Rojas, Tanmoy Mukherjee, Alan B. Copperman, Benjamin Sandler

Research output: Contribution to journalArticlepeer-review


Objective: 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. Methods: The study included couples who had G-banding karyotype testing and underwent an IVF/ PGT-A cycle between January 2012 and March 2018. The 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”. We assessed the rates of aneuploidy among the groups. We ran a multivariate regression analysis to assess the relationship between heterochromatic variants and the rates of embryo aneuploidy. Results: Of the 946 couples analyzed, 48 (5.0%) reported being a carrier of ≥1 heterochromatic variant. We had 869 IVF/PGT-A cycles included in the analysis (Group A: n=48; Group B: n=82). There were no significant differences in embryo ploidy rates among the groups. The heterochromatic chromosome variant was not associated with increased likelihoods of aneuploidy (OR=1.04, CI:95% 0.85– 1.07; p=0.46). Finally, the gender of the heterochromatic variant carrier had no association with increased likelihood of aneuploidy (OR 1.02, CI 95% 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 the karyotype.

Original languageEnglish
Pages (from-to)575-580
Number of pages6
JournalJornal Brasileiro de Reproducao Assistida
Issue number4
StatePublished - 2021


  • Chromosomal heteromorphisms
  • Embryo aneuploidy
  • Heterochromatic variants
  • In vitro fertilization
  • Preimplantation genetic testing (PGT)


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