Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
Key Laboratory of Women's Reproductive Health of Zhejiang Province, Hangzhou, Zhejiang 310006, China.
J Genet Genomics. 2020 Dec 20;47(12):723-726. doi: 10.1016/j.jgg.2020.11.007. Epub 2021 Jan 26.
Invasive genetic screening of pre-implantation embryos via biopsied trophectoderm (TE) cells has been in use for more than 20 years, while its benefits in selecting euploid embryos remain controversial. Recent advances in the ability to process embryonic cell-free DNA (cfDNA) from blastocoel fluid (BF) and spent culture media (SCM) of blastocysts in a manner similar to that of a biopsied TE sample provide a potential alternative holding great promise for obtaining cytogenetic information of the embryos without intrusive biopsy of traditional biopsy-based pre-implantation genetic testing (PGT). Several studies have reported even higher diagnostic accuracy in non-invasive PGT (ni-PGT) than conventional PGT. However, there are still several technical challenges to be overcome before ni-PGT can be accepted as a reliable genomic information source of embryo. In this review, we have summarized the emergence and current state of ni-PGT, and discussed our own perspectives on their limitations and future prospect. There is still a long way to go before truly wide clinical application of ni-PGT.
胚胎植入前通过活检滋养外胚层（TE）细胞进行的侵入性基因筛查已经使用了 20 多年，但其选择整倍体胚胎的益处仍存在争议。近年来，人们能够以类似于活检 TE 样本的方式处理胚胎腔液（BF）和囊胚培养液（SCM）中的胚胎无细胞游离 DNA（cfDNA）的能力取得了进展，为在不进行传统活检的情况下获取胚胎的细胞遗传学信息提供了一种很有前途的替代方法，这种方法不会对胚胎进行侵入性活检。一些研究报告称，非侵入性 PGT（ni-PGT）的诊断准确性甚至更高。然而，在 ni-PGT 可以被接受为胚胎可靠的基因组信息源之前，仍有几个技术挑战需要克服。在本文中，我们总结了 ni-PGT 的出现和现状，并讨论了我们对其局限性和未来前景的看法。在真正广泛应用 ni-PGT 之前，还有很长的路要走。
