IVF Assisted Reproduction Unit, Mitera General Hospital, Athens, Greece;
Laboratory of Physiology, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.
In Vivo. 2021 Nov-Dec;35(6):3449-3457. doi: 10.21873/invivo.12645.
BACKGROUND/AIM: Preimplantation genetic testing (PGT) for chromosomal screening, based on embryo biopsy, has significant limitations. Cell-free DNA (cf-DNA) has been detected in spent culture medium (SCM), opening new horizons for the development of non-invasive PGT (ni-PGT). In this study, we evaluated the diagnostic performance of ni-PGT for aneuploidy (niPGT-A), comparing the results of trophectoderm biopsies (TE) and respective SCM from individually cultured embryos via Next Generation Sequencing (NGS).
Forty fresh embryos were analyzed. TE and SCM from blastocysts were collected and analyzed.
We detected cfDNA in 100% of samples tested. The overall concordance rate between the ni-PGT-A and PGT-A was 27/33 (81.8%). The full concordance rate was 21/33 (63.6%). The aneuploidy agreement was 91.66%, and the euploidy agreement was 76.19%.
We found a good accordance between TE and SCM analysis, suggesting that niPGT-A could be a reliable alternative for chromosomal abnormalities assessment of in vitro cultured embryos.
背景/目的：基于胚胎活检的植入前遗传学检测（PGT）存在显著局限性。已在废弃的培养物（SCM）中检测到游离 DNA（cf-DNA），为非侵入性 PGT（ni-PGT）的发展开辟了新的前景。在这项研究中，我们通过下一代测序（NGS）评估了滋养外胚层活检（TE）和各自单独培养胚胎的 SCM 之间的非整倍体（niPGT-A）的诊断性能。
分析了 40 个新鲜胚胎。收集和分析囊胚的 TE 和 SCM。
我们检测到所有测试样本中的 cfDNA。ni-PGT-A 和 PGT-A 之间的总一致性率为 27/33（81.8%）。完全一致性率为 21/33（63.6%）。非整倍体的一致性为 91.66%，整倍体的一致性为 76.19%。
我们发现 TE 和 SCM 分析之间存在良好的一致性，表明 niPGT-A 可能是体外培养胚胎染色体异常评估的可靠替代方法。
