无创PGT技术的临床应用及研究进展

Noninvasive preimplantation genetic testing:clinical application and progress

胚胎植入前遗传学检测(preimplantation genetic testing,PGT)技术广泛应用于辅助生殖技术(assisted reproductive technology,ART)。PGT可以检测胚胎的单基因遗传病、染色体结构和数目变异,同时能改善胚胎植入效果、临床妊娠结局和活产率。但该技术涉及到的活检过程对胚胎具有一定的侵袭性,同时对设备和人员的要求颇高。而随着从囊胚液和胚胎培养液中发现了可以用于基因分析的游离DNA,无创PGT(noninvasive PGT,NiPGT)成为一种有潜力的检测方式,在辅助生殖领域有广阔的应用前景。现就目前NiPGT技术的应用及研究的有效性和局限性进行阐述,为临床应用提供依据。

Preimplantation genetic testing(PGT)has been widely used today in assisted reproductive technology(ART).PGT can detect embryonic monogenic genetic diseases,chromosome structure and number abnormalities,and improve clinical outcomes in terms of embryo implantation,clinical pregnancy,and live birth rates.Biopsy procedure in PGT is'invasive'for embryos and has high requirement for equipment and operators.With the discovery of free DNA for gene analysis in blastocyst fluid and embryo culture fluid and embryo culture fluid,a noninvasive PGT(NiPGT)becomes a potential alternative method.It has a broad application prospect in the field of assisted reproduction.Now we summarize the current application and research progress of NiPGT and analyze its effectiveness and limitations,to provide a basis for clinical applications.