With the development of molecular diagnostic technologies, including SNP, CGH and second-generation sequencing, more and more genetic disease causative genes have been discovered, and the birth of children with genetic diseases can be avoided through PGD or prenatal diagnosis. The process of PGD for rare genetic diseases: 1, family lineage specialist hospital to confirm the diagnosis, blood specimen collection, genetic diagnosis, clear pathogenic gene, consider PGD screening normal embryos; 2, fertility center registration consultation, genetic team to discuss whether PGD, clear can PGD, laboratory single-cell verification can detect the pathogenic loci; 3, single-cell loci verification is successful, the couple completed PGD preoperative laboratory, the After successful single-cell locus verification, both couples will complete the pre-procedure PGD tests, and will be seen 7-10 days before menstruation to determine the protocol and develop an individualized ovulation promotion plan; 4.Ultra-ovulation promotion, ultrasound monitoring of follicle growth for about 2 weeks; 5.Egg retrieval, ICSI fertilization, blastocyst culture; 6.Day5/6 blastocyst biopsy + SNP/CGH aneuploidy screening + genetic diagnosis, with charges based on the number of blastocysts formed (20,000 for ≤3 blastocysts, 40,000 for 4-6 blastocysts); 7.Freezing and storage of all blastocysts, waiting for PGD. If there are normal blastocysts, the embryos will be thawed and transferred on the 2nd or 3rd menstrual day (8-10 days); 8. Post-pregnancy checkups, amniocentesis karyotyping/SNP aneuploidy screening + genetic diagnosis at 16-20 weeks of gestation; 9. Long-term follow-ups during pregnancy and after delivery.