Genetic diseases are diseases caused by mutations in genetic material, including chromosomal disorders such as trisomy 18, trisomy 21, Creutzfeldt-Jakob syndrome, chromosomal translocations, and single gene disorders such as hemophilia, Duchenne muscular dystrophy, and thalassemia. Genetic diseases are mostly lethal, and the main manifestations of surviving carriers are not only a series of symptoms caused by the mutation of genetic material itself, but also the transmission of mutated genetic material to the next generation, manifesting as repeated spontaneous abortions, stillbirths, stillbirths, fetal malformations, etc., and most of them are untreatable. Every year, about 300,000 babies with birth defects are born in China, most of which are related to genetic diseases. Genetic diseases are therefore an important factor affecting the social and economic development of our country. Since most genetic diseases are not treatable, it is especially important to prevent the birth of children with genetic diseases. The development of assisted reproductive technologies, especially the development of pre-implantation genetic diagnosis IVF (PGD), which not only prevents the birth of children with genetic diseases but also helps carriers of genetic diseases to have healthy babies, is a method of examining embryos before they are implanted in the endometrium and selecting normal embryos for transfer. It is an earlier form of prenatal diagnosis and therefore it overcomes the physical and psychological pain associated with therapeutic abortion following prenatal diagnosis of fetal abnormalities. Since Handyside et al. reported the first successful pre-implantation genetic diagnosis IVF in 1990, over 4,000 cycles have been completed. It is used to detect more than 100 different genetic disorders in human embryos. the main steps of PGD are controlled superovulation, egg retrieval, fertilization, embryo biopsy, genetic testing, and normal embryo transfer. Currently, the main tests used are the oocyte bulb of the oogenesis embryo and the trophoblast ectodermal cells of the blastocyst. The main genetic testing methods commonly used are fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). In recent years there are new tests for PGD such as comparative genomic hybridization (CGH) and gene chip (Microarray), etc. The application of new methods has greatly improved the accuracy of diagnosis and reduced the rate of misdiagnosis, making the role of PGD in improving the success rate of IVF, preventing the birth of children with birth defects and helping carriers of genetic diseases to have healthy babies further prominent. In conclusion, although there is still something to be said for pre-implantation genetic diagnosis IVF technology, its clinical significance in assisted reproduction is unquestionable. As new technologies continue to advance, PGD will play a greater role in preventing birth defects and improving population quality.