Research progress of non-invasive preimplantation genetic testing by analysis of cell-free DNA released by human embryos into spent culture media

VernacularTitle:利用胚胎培养液中游离DNA进行无创植入前遗传学检测的研究进展
Author: Huitian WANG ¹ ; Tao LI ¹ ; Jianping OU ¹
Author Information

1. 中山大学附属第三医院生殖医学中心，广州　510630
Publication Type:Journal Article
Keywords: Fertilization in vitro; Embryonic cell-free DNA; Non-invasive preimplantation genetic testing; Spent culture medium
From: Chinese Journal of Reproduction and Contraception 2022;42(8):849-853
CountryChina
Language:Chinese
Abstract: Human embryos release cell-free DNA (cfDNA) into the culture medium during in vitro growth. cfDNA is composed of extracellular DNA fragments which are released from the cells as a result of necrosis or apoptosis. Use cfDNA for non-invasive preimplantation genetic testing (niPGT) has the advantages of non-invasive, easy to operate, and has made preliminary progress in the preimplantatoin genetic testing for aneuploidies and monogenic defects. However, the effectiveness of niPGT in clinical application, maternal contamination and the source of cfDNA are still controversial. In this paper, the clinical application of niPGT and the sources of cfDNA were reviewed, and the limitations and future application prospects of niPGT were put forward to provide reference for clinical practice.