Marzanati Daria, D'Alessandro Sara, Gentilini Davide, Rabellotti Elisa, Privitera Laura, Faulisi Sonia, Spinella Francesca, Biricik Anil, Cotroneo Ettore, Candiani Massimo, Pagliardini Luca, Papaleo Enrico, Alteri Alessandra
Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Reproductive Sciences Laboratory, Obstetrics and Gynecology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Life (Basel). 2025 Aug 11;15(8):1266. doi: 10.3390/life15081266.
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.
染色体结构重排(SR)会损害配子发生,增加携带染色体内容不平衡(即染色体物质有增加或缺失)胚胎的风险。在这种情况下,建议采用针对结构重排的植入前基因检测(PGT-SR)的辅助生殖技术(ART)来识别核型正常或平衡的胚胎。然而,在这种情况下关于体外受精实验室结果的数据仍然有限。这项回顾性队列研究分析了在一个单一的大学附属中心进行的548个ART周期,其中包括129个PGT-SR周期和419个PGT-A周期。在倾向得分匹配之后,使用逻辑回归比较实验室结果。两组之间的受精率相当,但PGT-SR组的囊胚发育率(36.7%对47.1%)和优质囊胚发育率(9.6%对21.1%)显著更低。在第5、6、7天的囊胚发育率或整倍体率方面未发现显著差异。在PGT-SR队列中,广义线性混合效应模型表明携带者性别对正常/平衡囊胚率没有显著影响,而SR的类型与之密切相关:与相互易位(45.7%)相比,非相互SR产生正常/平衡囊胚的比例更高(89.9%)。这些发现表明,接受PGT-SR的患者可用于活检的囊胚较少,并且在涉及相互易位的情况下,适合移植的正常/平衡囊胚的比例显著降低。这些结果强调了个性化咨询在管理期望和支持明智的临床决策方面的重要性。