关键词: 植入前诊断, 基因, 胚胎植入, 生殖医学, 研究技术

Abstract: 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.

Key words: Preimplantation diagnosis, Genes, Embryo implantation, Reproductive medicine, Investigative techniques