Hochberg Alyssa, Amoura Liliane, Zhang Xiao Yun, Zhang Li, Dahan Michael H, Ao Asangla
Department of Obstetrics and Gynecology, McGill University, 845 Rue Sherbrooke, O, Montreal, QC, 3HA 0G4, Canada.
The Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Arch Gynecol Obstet. 2025 Mar;311(3):827-839. doi: 10.1007/s00404-025-07968-x. Epub 2025 Jan 29.
To examine the association between blastocyst morphology and chromosomal status utilizing pre-implantation genetic testing for aneuploidy (PGT-A).
A single-center retrospective cohort study including 169 in-vitro fertilization cycles that underwent PGT-A using Next Generation Sequencing (2017-2022). Blastocysts were morphologically scored based on Gardner and Schoolcraft's criteria. Chromosomal analysis results included: euploid; aneuploid (single or double); segmental; mosaic; and complex (≥ 3 chromosome abnormalities). We examined associations between morphological parameters and chromosomal statuses of biopsied embryos utilizing multivariate logistic regression.
Overall, 855 blastocysts underwent PGT-A (PGT-A alone: N = 804; unaffected PGT for monogenic disease (PGT-M) embryos along with PGT-A: N = 51). Of these, 826 were successfully analyzed, with 321 euploid embryos (38.86%). Various morphological parameters (embryo quality, inner cell mass (ICM), trophectoderm (TE), and expansion stage) were more frequent within the double (n = 72, 8.72%), complex (n = 97, 11.74%), mosaic (n = 139, 16.83%), and segmental aneuploidy (n = 28, 3.39%) groups, with similar associations between different morphological parameters and single aneuploidy (n = 169, 20.46%). Utilizing multivariate logistic regression, higher expansion, embryo quality, and TE and ICM grades, were associated with increased odds of euploidy (versus non-euploidy). Higher expansion was a positive predictor of single versus double aneuploidy (aOR 2.94, 95% CI 1.52-5.56, p = 0.001); and higher ICM grade was a positive predictor of single versus complex aneuploidy (aOR 2.86, 95% CI 1.15-7.12, p = 0.024). No morphological parameter was found to be associated with single versus mosaic aneuploidy.
Various morphological parameters are associated with euploidy and different aneuploidy statuses of pre-implantation blastocysts. These findings may aid in the selection of the assumed best chromosomally structured blastocyst for transfer when PGT-A is not performed.
利用胚胎植入前非整倍体基因检测(PGT-A)研究囊胚形态与染色体状态之间的关联。
一项单中心回顾性队列研究,纳入了169个体外受精周期,这些周期在2017年至2022年期间采用下一代测序技术进行了PGT-A。根据Gardner和Schoolcraft的标准对囊胚进行形态学评分。染色体分析结果包括:整倍体;非整倍体(单倍体或双倍体);片段性;嵌合型;以及复杂型(≥3条染色体异常)。我们利用多变量逻辑回归分析了活检胚胎的形态学参数与染色体状态之间的关联。
总体而言,855个囊胚接受了PGT-A(仅PGT-A:N = 804;单基因疾病的未受影响PGT(PGT-M)胚胎以及PGT-A:N = 51)。其中,826个成功进行了分析,有321个整倍体胚胎(38.86%)。各种形态学参数(胚胎质量、内细胞团(ICM)、滋养外胚层(TE)和扩张阶段)在双倍体(n = 72,8.72%)、复杂型(n = 97,11.74%)、嵌合型(n = 139,16.83%)和片段性非整倍体(n = 28,3.39%)组中更为常见,不同形态学参数与单倍体非整倍体(n = 169,20.46%)之间的关联相似。利用多变量逻辑回归分析,较高的扩张程度、胚胎质量以及TE和ICM等级与整倍体(相对于非整倍体)的几率增加相关。较高的扩张程度是单倍体与双倍体非整倍体的正向预测指标(调整后比值比2.94,95%置信区间1.52 - 5.56,p = 0.001);较高的ICM等级是单倍体与复杂型非整倍体的正向预测指标(调整后比值比2.86,95%置信区间1.15 - 7.12,p = 0.024)。未发现任何形态学参数与单倍体与嵌合型非整倍体相关。
各种形态学参数与植入前囊胚的整倍体和不同非整倍体状态相关。这些发现可能有助于在未进行PGT-A时选择假定染色体结构最佳的囊胚进行移植。