Department of Reproductive Medicine, The First People's Hospital of Yunnan Province, Kunming, China; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China; National Health Commission Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
Department of Reproductive Medicine, The First People's Hospital of Yunnan Province, Kunming, China; National Health Commission Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
J Mol Diagn. 2023 Dec;25(12):945-956. doi: 10.1016/j.jmoldx.2023.09.005. Epub 2023 Oct 6.
Recently, noninvasive preimplantation genetic testing (ni-PGT) using degenerate oligonucleotide primer PCR (DOP-PCR) and multiple annealing and looping-based amplification cycle (MALBAC)-based whole-genome amplification (WGA) methods has demonstrated predictable results in embryo testing. However, a considerable heterogeneity of results has been reported in numerous studies on these two WGA methods. Our aim was to evaluate the current WGA method for ni-PGT while further clarifying the applicable scenarios of ni-PGT in the fresh cycle. A total of 173 embryos were tested with trophectoderm biopsy and ni-PGT. In the whole preimplantation genetic testing, the clinical concordance rates of the detection results of DOP-PCR and MALBAC with the corresponding trophectoderm biopsy results were 64.12% (84/131) and 68.99% (89/129), respectively (P = 0.405). However, in the detection of abnormal embryos, the detection efficiency of ni-PGT is significantly improved [MALBAC: 96.55% versus 68.99% (P < 0.001); and DOP-PCR: 89.09% versus 64.12% (P < 0.001)]. In addition, the diagnostic efficiency of ni-PGT in low-quality blastocysts was significantly higher than that in high-quality blastocysts [MALBAC: 95.24% versus 51.85% (P = 0.001); and DOP-PCR: 91.30% versus 48.15% (P = 0.001)]. These results contribute to further understanding ni-PGT and to clarifying its application scenario in the fresh cycle.
最近，使用退化寡核苷酸引物 PCR（DOP-PCR）和多重退火和环化扩增循环（MALBAC）基全基因组扩增（WGA）方法的非侵入性胚胎植入前遗传学检测（ni-PGT）已在胚胎检测中显示出可预测的结果。然而，在这两种 WGA 方法的许多研究中，报告了相当大的结果异质性。我们的目的是评估当前的 ni-PGT WGA 方法，同时进一步阐明 ni-PGT 在新鲜周期中的适用场景。共对 173 个胚胎进行了滋养外胚层活检和 ni-PGT 检测。在整个胚胎植入前遗传学检测中，DOP-PCR 和 MALBAC 的检测结果与相应的滋养外胚层活检结果的临床一致性率分别为 64.12%（84/131）和 68.99%（89/129）（P=0.405）。然而，在异常胚胎的检测中，ni-PGT 的检测效率显著提高[MALBAC：96.55%比 68.99%（P<0.001）；DOP-PCR：89.09%比 64.12%（P<0.001）]。此外，ni-PGT 在低质量囊胚中的诊断效率显著高于高质量囊胚[MALBAC：95.24%比 51.85%（P=0.001）；DOP-PCR：91.30%比 48.15%（P=0.001）]。这些结果有助于进一步了解 ni-PGT，并阐明其在新鲜周期中的应用场景。
