Research progress on new techniques for preimplantation genetic diagnosis / 医学研究生学报

ABSTRACT

Preimplantation genetic diagnosis (PGD) was developed to play a supporting role in assisted reproductive technology. With this kind of detection method, embryos with copy number variations, chromosome translocations or single mutations were excluded and the normal embryos were chosen and implanted. Theoretically, the application of these procedures could improve the implantation and pregnancy rate and help to delivery healthy offspring. PGD was considered to be more precise, higher specific and non-invasive with the appearance of microarray hybridization technology, the next generation sequencing and time-lapse monitoring technology. This paper presented a review of new Methods used in PGD, including fluorescence in situ hybridization, array comparative genomic hybridization, SNP array, next generation sequencing, MicroSeq-PGD, MaReCs, time-lapse monitoring and cfDNA-based method, and their advantages and disadvantages as well as efficacy in the procedures in which they are used.