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

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

胚胎在体外生长过程中会向培养液中释放游离DNA(cell-free DNA,cfDNA)。cfDNA指游离于细胞外的DNA片段,是胚胎发育过程中细胞生理性凋亡的产物。利用cfDNA进行无创胚胎植入前遗传学检测(non-invasive preimplantation genetic testing,niPGT)具有无创、操作简便等优点,已在胚胎染色体非整倍体检测及单基因疾病诊断方面取得了初步进展。然而,目前niPGT临床应用的有效性、母源污染和cfDNA来源等问题仍存在争议。本文对niPGT在临床方面应用现状及cfDNA来源进行综述,并对其局限性及未来应用前景提出观点,为niPGT应用于临床实践提供参考。

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.