The Comparison of Two Whole-Genome Amplification Approaches for Noninvasive Preimplantation Genetic Testing (ni-PGT) and the Application Scenario of ni-PGT during the Fresh Cycle

Recently, non-invasive preimplantation genetic testing (ni-PGT) using DOP-PCR and 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. The aim of this study 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 (TE) biopsy and ni-PGT. In the whole PGT, the clinical concordance rates of the detection results of DOP-PCR and MALBAC with the corresponding TE 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 findings confirm the suitability of two WGA methods for ni-PGT, although the consistency rate of ni-PGT throughout the PGT is low. However, the study also revealed that the detection efficiency is very high in abnormal embryos and low-quality blastocysts. These results contribute to further understanding ni-PGT and to clarifying its application scenario in the fresh cycle.