Chromosomal structural rearrangements (SR) can impair gametogenesis, increasing the risk of embryos carrying unbalanced chromosomal content (i.e., with a gain or loss of chromosomal material). In such cases, assisted reproduction technologies (ARTs) with preimplantation genetic testing for structural rearrangements (PGT-SR) is recommended to identify embryos with a normal or balanced karyotype. However, data on IVF laboratory outcomes in this context remain limited. This retrospective cohort study analyzed 548 ART cycles, comprising 129 with PGT-SR and 419 with PGT-A, conducted at a single university-affiliated center. Following propensity score matching, laboratory outcomes were compared using logistic regression. The fertilization rate was comparable between groups, but the PGT-SR group had significantly lower blastocyst development (36.7% vs. 47.1%) and top-quality blastocyst development rates (9.6% vs. 21.1%). No significant differences were found either in the blastocyst development rate on days 5, 6, 7, or in euploidy rates. In the PGT-SR cohort, the generalized linear mixed-effects model indicated no significant effect of carrier gender on the normal/balanced blastocyst rate, while the type of SR was strongly associated with it: non-reciprocal SRs yielded a higher rate of normal/balanced blastocysts (89.9%) compared to reciprocal translocations (45.7%). These findings indicate that patients undergoing PGT-SR generate fewer blastocysts available for biopsy, and that in cases involving reciprocal translocations, the proportion of normal/balanced blastocysts suitable for transfer is significantly reduced. These results underscore the importance of personalized counseling in managing expectations and supporting informed clinical decision-making.
Impact of Chromosomal Structural Rearrangements on IVF Laboratory Outcomes in PGT-SR Cycles: A Propensity Score Matching-Based Study
Marzanati, Daria;D'Alessandro, Sara;Gentilini, Davide;
2025-01-01
Abstract
Chromosomal structural rearrangements (SR) can impair gametogenesis, increasing the risk of embryos carrying unbalanced chromosomal content (i.e., with a gain or loss of chromosomal material). In such cases, assisted reproduction technologies (ARTs) with preimplantation genetic testing for structural rearrangements (PGT-SR) is recommended to identify embryos with a normal or balanced karyotype. However, data on IVF laboratory outcomes in this context remain limited. This retrospective cohort study analyzed 548 ART cycles, comprising 129 with PGT-SR and 419 with PGT-A, conducted at a single university-affiliated center. Following propensity score matching, laboratory outcomes were compared using logistic regression. The fertilization rate was comparable between groups, but the PGT-SR group had significantly lower blastocyst development (36.7% vs. 47.1%) and top-quality blastocyst development rates (9.6% vs. 21.1%). No significant differences were found either in the blastocyst development rate on days 5, 6, 7, or in euploidy rates. In the PGT-SR cohort, the generalized linear mixed-effects model indicated no significant effect of carrier gender on the normal/balanced blastocyst rate, while the type of SR was strongly associated with it: non-reciprocal SRs yielded a higher rate of normal/balanced blastocysts (89.9%) compared to reciprocal translocations (45.7%). These findings indicate that patients undergoing PGT-SR generate fewer blastocysts available for biopsy, and that in cases involving reciprocal translocations, the proportion of normal/balanced blastocysts suitable for transfer is significantly reduced. These results underscore the importance of personalized counseling in managing expectations and supporting informed clinical decision-making.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
