Retrospective analysis of meiotic segregation pattern and interchromosomal effects in blastocysts from inversion preimplantation genetic testing cycles

Abstract

To determine factors affecting unbalanced chromosomal rearrangement originating from parental inversion and interchromosomal effect occurrence in blastocysts from inversion carriers. Retrospective study. University-affiliated center. Couples with one partner carrying inversion underwent preimplantation genetic testing for chromosomal structural rearrangement cycles. Not applicable. Unbalanced rearrangement embryo rate, normal embryo rate, interchromosomal effect. Preimplantation genetic testing was performed for 576 blastocysts from 57 paracentric (PAI) and 94 pericentric (PEI) inversion carriers. The percentage of normal/balanced blastocysts was significantly higher in PAI than PEI carriers (70.4% vs. 57.5%). Logistic regression indicated the inverted segment size ratio was a statistically significant risk factor for abnormality from parental inversion in both PEI and PAI. The optimal cutoff values to predict unbalanced rearrangement risk were 35.7% and 57%. In PAI, rates of abnormality from parental inversion were 0% and 12.1% in the <35.7% and ≥35.7% groups, respectively, with no gender difference. For PEI, the rates of abnormality from parental inversion were 7.9% and 33.1% in the <57% and ≥57% groups, respectively. In the ≥57% group, the rate of unbalanced rearrangement was significantly higher from paternal than maternal inversion (43.3% vs. 23.6%). In inversion carriers, 21,208 chromosomes were examined, and 187 (0.88%) malsegregations were identified from structurally normal chromosomes. In controls, 56,488 chromosomes were assessed, and 497 (0.88%) aneuploidies were identified, indicating no significant difference. The risk of unbalanced rearrangement is affected by the ratio of inverted segment size in both PAI and PEI carriers and is associated with gender.