Non-invasive Preimplantation Genetic Testing of Embryonic Genome in Spent Culture Medium
Huang, L.; Zou, Y.; Zhang, R.; Huang, J.; Ying, G.; Wang, Q.; Xia, Y.; Jia, J.; Wu, Z.; Cao, D.; Song, W.; Tang, Y.; Liu, K.; Chai, X.; Chen, G.-B.; Lu, S.; Ge, H.; Qiao, J.; Xie, X. S.
Show abstract
Traditionally, preimplantation genetic testing (PGT) for in vitro fertilization (IVF) requires invasive trophectoderm (TE) biopsy, which might be detrimental to the embryo. Recently proposed non-invasive PGT (ni-PGT) utilizing cell-free DNA from spent embryo culture medium (SCM) also faces serious challenges in accuracy, especially for monogenic diseases (niPGT-M), due to trace DNA content, maternal cell contamination, and high Allele Drop-Out (ADO) rates. In this study, an improved linear single-cell whole genome amplification method and a Bayesian linkage analysis model were used to enhance accuracy in niPGT-M. We achieved about 75% report rate across all samples and 100% accuracy in the reported samples. Meanwhile, we reconstructed the embryonic genome and calculated the risk of type II diabetes (T2D) via niPGT-P, consistent well with those from TE biopsy samples. Our approach alleviated the limitations of ni-PGT and offers a promising avenue for advancing noninvasive PGT with potential clinical applications.
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