Concordance of preimplantation genetic testing for aneuploidy between blastocyst biopsies and spent blastocyst culture medium

• Published in: Reproductive biomedicine online
• Main Authors: Xu, Chang Long, Wei, Yong Quan, Tan, Qing Ying, Huang, Ying, Wu, Jing Jing, Li, Chun Yuan, Ma, Ya Feng, Zhou, Ling, Liang, Bo, Kong, Ling Yin, Xu, Rui Xia, Wang, Ying Ying
• Format: Journal Article
• Language: English
• Published: 2022
• Subjects: Obstetrics and Gynecology; residual blastocyst; blastocyst culture medium; cell-free DNA; trophectoderm biopsy; inner cell mass; non-invasive PGT
• ISSN: 1472-6483
• DOI: 10.1016/j.rbmo.2022.10.001

ABSTRACTResearch question: Noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) avoids the possible detrimental impact of invasive PGT-A on embryo development and clinical outcomes. However, it is still not clear whether cell-free DNA (cfDNA) from spent blastocyst culture medium (BCM) reflects embryonic chromosome status better than trophectoderm (TE) biopsy. Design: In this study, 35 donated embryos were used for research and the BCM, TE biopsy, inner cell mass (ICM), and residual blastocyst (RB) were individually picked up from these embryos. Whole-genome amplification (WGA) was performed and amplified DNA was subject to next-generation sequencing. Chromosome status concordance was compared among the groups of samples. Results: The WGA success rates were 97.0% (TE biopsy), 100% (ICM), 97.0% (RB), and 88.6% (BCM). Using ICM as the gold standard, the chromosomal ploidy concordance rates for BCM, TE biopsy, and RB were 58.33% (14/24), 68.75% (22/32), and 78.57% (22/28); the diagnostic concordance rates were 83.33% (20/24), 87.5% (28/32), and 92.86% (26/28); and the sex concordance rates were 92.31% (24/26), 100% (32/32), and 100% (28/28), respectively. Considering RB the gold standard, the chromosome ploidy concordance rates for BCM and TE biopsy were 61.90% (13/21) and 81.48% (22/27); the diagnostic concordance rates were 71.43% (15/21) and 88.89% (24/27); and the sex concordance rates were 91.30% (21/23), 100% (27/27), respectively. Conclusions: The results of niPGT-A of cfDNA of spent BCM are comparable to those of invasive PGT-A of TE biopsies. Modifications of embryo culture conditions and testing methods will help reduce maternal DNA contamination and improve the reliability of niPGT-A.