基于单细胞的分子技术在胚胎植入前遗传学检测中的应用

Single cell-based molecular detecting technologies in preimplantation genetic testing

自1989年胚胎植入前诊断技术首次成功应用以来，胚胎植入前遗传学检测技术（PGT）在分子诊断技术改革的推动下迅速发展及推广。作为一种更早期形式的产前诊断，PGT通过对辅助生殖周期中体外培养的胚胎细胞进行致病基因突变的检测或染色体异常的筛查，从而筛选优质胚胎，以提高辅助生殖成功率。PGT涉及生殖医学领域的辅助生殖技术、医学检验领域的分子检测技术以及胎儿医学领域的遗传咨询技术。本文将立足于检验医学的角度，对分子检测技术在PGT领域的应用和进展进行阐述，并探讨其未来的发展方向。

Since the first report of preimplantation genetic diagnosis success in clinical in 1989, it is technological development that has been the driving force of preimplantation genetic testing（PGT）. As the early stage prenatal diagnosis, PGT is used in the setting of assisted reproduction to differentiate the genetically normal embryos from pathogenic mutations or chromosomal anomalies in order to increase the rates of fruitful pregnancy. PGT involves technologies of assisted reproduction, molecular detection and genetic counseling. The aim of this review is to, from the perspective of laboratory medicine, summarize the utilization and progress of molecular strategies in the fieht of PGT, and explore its future development.