针对胚胎遗传学检测的全新国产测序平台的临床应用

Clinical Application for Embryo Genetic Testing Based on a New Domestic Sequencing Platform

摘要: 目的：评估全新国产测序平台——GenoLab M DX基因测序仪在临床检测中的应用价值。方法：收集2021~2023年于我中心行辅助生殖技术助孕的患者的3位亚显微染色体拷贝数异常患者的4个染色体异常胚胎和数个IVF周期的132枚早期发育阻滞的胚胎、20个外周血样本及1个流产样本投入国产测序平台GenoLab M DX进行染色体测序，验证此平台对于CNV的有效测定。结果：4个废弃胚胎均基本上检测到预期的2~3 M的小CNV；早期发育阻滞的胚胎中成功检测127枚，染色体异常率为74.8% (95/127)，32枚胚胎染色体正常；部分外周血样本中也检测出了染色体核型异常存在。结论：GenoLab M DX基因测序仪对样本进行染色体非整倍体检测，展现出超高的准确性和时效性，实现低成本前提下的高临床应用价值。

Abstract: Objective: To evaluate the application value of the novel domestic sequencing platform, the GenoLab M DX gene sequencer, in clinical testing. Methods: From 2021 to 2023, a total of 4 chromosomally abnormal embryos (with submicroscopic copy number variations [CNVs]) from 3 patients undergoing assisted reproductive technology (ART) at our center, 132 early development-arrested embryos from several IVF cycles, 20 peripheral blood samples, and 1 miscarriage sample were subjected to chromosomal sequencing using the domestic GenoLab M DX sequencing platform. The platform’s effectiveness in detecting CNVs was validated. Results: All four discarded embryos were essentially detected with the expected small CNVs (2~3 Mb). Among the 132 early development-arrested embryos, 127 were successfully sequenced, with a chromosomal abnormality rate of 74.8% (95/127). Thirty-two embryos were found to be chromosomally normal. Chromosomal karyotype abnormalities were also detected in some peripheral blood samples. Conclusion: The GenoLab M DX gene sequencer demonstrated ultra-high accuracy and timeliness in detecting chromosomal aneuploidy in samples, achieving high clinical application value at a low cost.