Cheng En-Hui, Shih Hui-Hsin, Lee Tsung-Hsien, Lin Pin-Yao, Yu Tzu-Ning, Huang Chun-Chia, Lee Maw-Sheng, Lee Chun-I
Genetic Diagnosis Laboratory, Lee Women's Hospital, Taichung 40652, Taiwan.
Post Baccalaureate Medicine, National Chung Hsing University, Taichung 40227, Taiwan.
Int J Mol Sci. 2025 May 30;26(11):5284. doi: 10.3390/ijms26115284.
Preimplantation genetic testing for aneuploidy (PGT-A) is widely used to select euploid embryos for in vitro fertilization (IVF), but its accuracy in predicting the implantation potential for full segmental aneuploid (Seg-A) embryos remains unclear. In this study, we investigated chromosomal concordance between clinically biopsied trophectoderm (TE) and inner cell mass (ICM) in 175 donated blastocysts, which comprised those clinically diagnosed as euploid (13), Seg-A (36), segmental mosaicism (Seg-M) (60), whole-chromosome aneuploid (Who-A) (52), and whole-chromosome mosaicism (14). Using next-generation sequencing (NGS), we found that TE-ICM concordance rates were higher for euploid (85%) and Who-A (94%) embryos but significantly lower for Seg-A (25%) and Seg-M embryos (33%). For Seg-A, the euploidy rate in the ICM was 19% and the euploidy rate in the ICM was 63% for Seg-M. These low concordance rates may be due to technical and biological artifacts of PGT-A for Seg-A. Despite the significant discordance between TE and ICM, a subset of Seg-A embryos demonstrated euploidy. While clinically diagnosed euploid embryos remain the preferred choice, Seg-A embryos should be considered as having implantation potential. In particular, Seg-A results should be clearly distinguished from Who-A results and not routinely categorically discarded. Further research is required to refine the selection criteria, aided by parental karyotyping or re-biopsy, and to develop more reliable embryo assessment methods to ensure the accurate evaluation of reproductive potential and support shared decision making between doctors and patients.
植入前非整倍体基因检测（PGT-A）被广泛用于体外受精（IVF）中选择整倍体胚胎，但其预测全片段非整倍体（Seg-A）胚胎着床潜力的准确性仍不清楚。在本研究中，我们调查了175个捐赠囊胚中临床活检的滋养外胚层（TE）和内细胞团（ICM）之间的染色体一致性，这些囊胚包括临床诊断为整倍体（13个）、Seg-A（36个）、片段性嵌合体（Seg-M）（60个）、全染色体非整倍体（Who-A）（52个）和全染色体嵌合体（14个）的囊胚。使用下一代测序（NGS），我们发现整倍体（85%）和Who-A（94%）胚胎的TE-ICM一致性率较高，但Seg-A（25%）和Seg-M胚胎（33%）的一致性率显著较低。对于Seg-A，ICM中的整倍体率为19%，对于Seg-M，ICM中的整倍体率为63%。这些低一致性率可能是由于Seg-A的PGT-A技术和生物学假象所致。尽管TE和ICM之间存在显著不一致，但一部分Seg-A胚胎表现为整倍体。虽然临床诊断的整倍体胚胎仍然是首选，但Seg-A胚胎应被视为具有着床潜力。特别是，Seg-A结果应与Who-A结果明确区分，不应常规地一概丢弃。需要进一步研究以完善选择标准，借助父母核型分析或再次活检，并开发更可靠的胚胎评估方法，以确保准确评估生殖潜力并支持医生与患者之间的共同决策。
