Pre-implantation genetic diagnosis and screening: now and the future

Abstract

Since 1989, the year of the first pre-implantation genetic diagnosis (PGD), many developments occurred both in assisted reproduction techniques and in molecular tools. While PGD is a well-established and documented application, pre-implantation genetic screening (PGS) for the detection of aneuploid embryos is still debated due to the presence of mosaicism in the embryo, but especially to the knowledge of the limits that label an embryo as healthy or as appropriate to the life. The aim of this review is to present the state-of-the-art in the field of PGD and PGS, illustrating its benefits and limitations, along with biopsy techniques and the use of new high-throughput technologies.

Chinese abstract

自1989年首次开展胚胎植入前遗传学诊断以来，在辅助生殖技术和分子工具方面都有了新发展。胚胎植入前遗传学诊断是一个已完善建立和记录的应用程序，由于在胚胎中存在嵌合现象，胚胎植入前遗传学筛查对于非整倍体胚胎的检测仍存在争论，尤其是关于把胚胎标记为健康的胚胎或者能够存活的胚胎的知识是有限的。本文的目的是展示领域内最先进的胚胎植入前的遗传学诊断和筛查技术，以及活检技术和新的高通量技术的使用，介绍它们的优势和不足。

• Biopsy
• blastocoele
• genetic
• mosaicism
• PGD
• PGS

Declaration of interest

The authors report no declarations of interest.