胚胎植入前遗传学检测技术的发展及临床应用

随着测序技术的发展,胚胎植入前遗传学检测(PGT)技术广泛应用于辅助生殖技术(ART)。相对于传统的羊膜腔穿刺术和绒毛活检,PGT可以检测胚胎的单基因遗传病、染色体结构和数目变异、基因位点突变等,是产前诊断的最早形式。PGT可获得胚胎的基因信息,避免移植有导致先天性疾病的胚胎,如大多数染色体组缺陷或染色体重排的遗传病。多国机构也相继公布了关于PGT的使用指南。而随着在囊胚腔液和胚胎培养液中发现了可用于基因分析的DNA,非侵入性植入前遗传筛查(NIPGS)成为可能,NIPGS在辅助生殖领域具有广阔的应用前景。现分析目前PGT尤其是NIPGS技术的应用现状及进展,阐述其优缺点以及适用范围,为临床应用提供依据。

Preimplantation Genetic Testing in Technology: Present and Future

With the development of sequencing technology, preimplantation genetic testing (PGT) technology has been more widely used in assisted reproductive technology (ART). Comparing with traditional amniocentesis and villous biopsy, PGT as the earliest form of prenatal diagnosis can detect embryonic monogenic genetic diseases, chromosome structure and number abnormalities, gene locus mutations, and so on. PGTs can be used to obtain the genetic information of embryos, so that those embryos with congenital diseases can be avoided to transfer, such as the embryos with chromosomal defects or rearrangements. The clinical application guidelines and the committee opinion of the use of PGT have been published by many health organizations. With the discovery of DNA in blastocyst fluid and embryo culture media for gene analysis, noninvasive preimplantation genetic screening (NIPGS) is possible, and NIPGS has a broad application prospect in the field of assisted reproduction. In this paper, the progress of PGT, especially NIPGS, was reviewed, including advantages, disadvantages and its scope of application, so as to provide insights for the clinical.