评估取样时间对非侵入性胚胎植入前非整倍体检测的影响

Evaluate the effect of sampling time on non-invasive preimplantation genetic testing aneuploidy

目的探讨囊胚培养液(spent culture medium,SCM)不同取样时间在非侵入性胚胎植入前遗传学检测(non-invasive preimplantation genetic testing for aneuploidy,niPGT-A)中的影响。方法采用前瞻性研究,对2021年3月至2022年12月行非整倍体的胚胎植入前遗传学检测(preimplantation genetic testing,PGT-A)患者85个周期的369个囊胚进行外滋养层细胞(trophectoderm,TE)活检,同时收集SCM。根据其收集起始时间分为第3天(D3)、第4天(D4)、第5天(D5)三组,比较三组取样方法扩增成功率、母源性污染比例以及niPGT-A的检测结果与PGT-A结果的符合率。结果369个囊胚中,D3收集65例,D4收集186例,D5收集118例。D3收集组母源性污染率明显高于D4、D5收集组,差异有统计学意义(P<0.05);D3收集组niPGT-A与PGT-A结果的一致率、特异性和曲线下面积(AUC),明显低于D4、D5收集组,差异有统计学意义(P<0.05)。结论niPGT-A收集后期培养液与外滋养层细胞活检的一致性更高。

Objective To investigate the efficacy of different sampling times of SCM in niPGT-A.Methods A prospective study was conducted on 369 blastocysts from 85 cycles of patients who underwent PGT-A for aneuploidy from March 2021 to December 2022.TE biopsies were performed on these blastocysts,and simultaneously,SCM were collected.According to the different starting times of SCM collection,three methods were divided into D3,D4 and D5.The amplification success rate of the three sampling methods,the proportion of maternal contamination and the coincidence rate of niPGT-A and PGT-A detection results were compared.Results In this study,369 blastocysts of PGT-A cycle were collected,all of which underwent TE biopsy and SCM collection,including 65 blastocysts by D3 collection methods,186 by D4 method and 118 by D5 method.Compared with the three methods,the maternal pollution rate of D3 collection method was significantly higher than that of D4 and D5 collection method,and the difference was statistically significant(P<0.05).The consistency,specificity and area under curve(AUC)of niPGT-A and PGT-A results of D3 were significantly lower than D4 and D5,and the difference was statistically significant(P<0.05).Conclusions The consistency between niPGT-A culture medium and TE biopsy was higher after collection.