a Reproductive Genetics Innovations , Chicago , IL , USA.
Expert Rev Mol Diagn. 2017 Dec;17(12):1071-1088. doi: 10.1080/14737159.2017.1394186. Epub 2017 Nov 8.
Preimplantation genetic testing (PGT) is now a widely applied procedure in genetic practices and ART, with more than one third of ART Centers in US already utilizing PGT technology. Its indications have also been significantly extended to include common late-onset disorders and non-genetic conditions, such as testing for HLA match. Areas covered: This is a critical review of the developments in PGT, with emphasis on their outstanding limitations and directions for the future research and practice in the area of PGT. Expert commentary: The application of the new higher resolution PGT technologies has led to the identification of genetic variations, the biological and clinical importance of which is not sufficiently understood. It is obvious that the current selection process of embryos with the highest developmental potential requires a further improvement, as significant proportion of transferred euploid embryos still fail to result in an ongoing clinical pregnancy. More research will be needed to upgrade PGT for different conditions into a single universal test in the same biopsy material. To avoid a potential damage of embryo biopsy procedures, one of the important challenges will be the development of non-invasive approaches to PGT.
胚胎植入前遗传学检测（PGT）现已广泛应用于遗传实践和辅助生殖技术（ART）中，美国超过三分之一的 ART 中心已经采用了 PGT 技术。其适应证也已显著扩展，包括常见的迟发性疾病和非遗传疾病，如 HLA 配型检测。涵盖领域：本文对 PGT 的发展进行了批判性评价，重点关注其突出的局限性以及该领域 PGT 的未来研究和实践方向。专家评论：新的更高分辨率 PGT 技术的应用导致了遗传变异的识别，但这些遗传变异的生物学和临床重要性尚未得到充分理解。显然，目前选择具有最高发育潜力的胚胎的过程需要进一步改进，因为大量转移的整倍体胚胎仍然无法导致持续的临床妊娠。为了将不同条件下的 PGT 升级为同一样本材料中的单一通用检测，还需要更多的研究。为了避免胚胎活检过程的潜在损害，其中一个重要挑战将是开发非侵入性的 PGT 方法。
