Assisted Reproductive Technology Unit, Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
J Assist Reprod Genet. 2019 Aug;36(8):1609-1621. doi: 10.1007/s10815-019-01517-7. Epub 2019 Jul 10.
This study was to evaluate if spent culture media (SCM) of embryos could be used as a non-invasive tool to achieve aneuploidy screening. Ploidy calls, as well as concordance rates between PGT-A results from trophectoderm (TE) and SCM, were compared. Clinical outcomes of single euploid transfers were also evaluated.
The study was conducted from March 2017 to June 2018 in a university-based ART center. SCM of day 3 to the day(s) of TE biopsy of all biopsied blastocysts were collected for testing. PGT-A results of SCM were compared with the standard results of TE, with clinical relevance and outcomes examined.
NiPGT-A using SCM gave a sensitivity of 81.6%, specificity of 48.3%, positive predictive value of 82.6%, and negative predictive value of 46.7% in ploidy calling. The concordance rates for autosomes and sex determination were 62.1% and 82.4%, respectively. There were 14 single embryo transfer cycles of euploids as determined by TE biopsy. Clinical outcomes not only confirmed 3 false positive results from SCM but also reflected the true ploidy status of the transferred embryo in one case. If ploidy calls were dichotomized without mosaic embryos, the sensitivity and NPV would increase to 91.0% and 66.7% (p = 0.60 and p = 0.25), respectively.
Cell-free DNA found in SCM could provide ploidy information of an embryo as in PGT-A from its TE. Given its potential to reflect the comprehensive chromosomal profile of the whole embryo, more research based on clinical outcomes is required to determine if SCM could be a reliable selection tool in PGT-A.
本研究旨在评估胚胎的废弃培养物（SCM）是否可用作非侵入性工具来实现非整倍体筛查。比较了整倍体调用以及滋养外胚层（TE）和 SCM 的 PGT-A 结果之间的一致性率。还评估了单倍体转移的临床结局。
该研究于 2017 年 3 月至 2018 年 6 月在一家大学为基础的 ART 中心进行。收集所有活检的囊胚第 3 天至 TE 活检日的 SCM 进行检测。比较 SCM 的 PGT-A 结果与 TE 的标准结果，并检查临床相关性和结果。
NiPGT-A 使用 SCM 在整倍体调用中灵敏度为 81.6%，特异性为 48.3%，阳性预测值为 82.6%，阴性预测值为 46.7%。常染色体和性别鉴定的一致性率分别为 62.1%和 82.4%。有 14 个 TE 活检确定的单胚胎转移周期为整倍体。临床结果不仅证实了 SCM 的 3 个假阳性结果，而且在一个病例中反映了转移胚胎的真实倍性状态。如果将整倍体调用分为无嵌合体的二分类，灵敏度和 NPV 将分别增加到 91.0%和 66.7%（p=0.60 和 p=0.25）。
SCM 中发现的无细胞游离 DNA 可提供胚胎的倍性信息，如 TE 中的 PGT-A。鉴于其反映整个胚胎综合染色体谱的潜力，需要更多基于临床结果的研究来确定 SCM 是否可作为 PGT-A 的可靠选择工具。
