At present, the incidence of birth defects in China is as high as 5.6%, and more than 900,000 birth defects are born every year. According to hospital records, the annual economic loss caused by birth defects exceeds 14.2 billion yuan. Studies have shown that on average, every healthy person is carrying of 2.4 pathogenic gene, which may drive serious diseases. At present, humans have found more than 8000 monogenic inherited diseases. Since most of monogenic inherited diseases are very serious, incurable and require medication for lifelong, a monogenic defect baby brings great pressure and burden to the family. It is recommended for such families to use PGD to avoid transmitting such disease-causing genes to the next generation.
I am 28 years old and have been married for 3 years. The mother-in-law is deaf and mute. Worried about inheritance, we have never dared to have children. About half a year ago, we heard from relatives that the tests from Yikon genomics can prevent deafness and mute from being passed on to the offspring. We immediately called Yikon to consult on the medical procedures. After understanding my family's situation in detail, the genetic counselor firstly suggested to test whether the deafness is hereditary. We send samples to Yikon Genomic Company, and then the whole family began to wait anxiously. After receiving the test results, Yikon called and told that the mother-in-law was deaf because of the mutation of the GJB2 gene. They asked us if we would like to do IVF to block this genetic mutation and they can recommend hospitals. After consulting the cost and related precautions, our family discussed for days and decided to try IVF.
After coming to the recommended hospital, the doctor learned about our situation and conducted a series of examinations on my husband and me, such as hormones test, sperm motility and etc. Then the doctor informed that we were in good physical condition. He took blood from my husband, parents-in-law, my parents and me to perform a pedigree verification. At the same time, my husband and I underwent egg retrieval, IVF, in vitro culture and cryopreservation. A month later, we got the family verification results, and the doctor told us that we could proceed to the next step, which was really relieving. Later, the doctor thawed our embryos and cultured them in vitro to the blastocyst stage and take ectoderm cells for PGT-M. It was a long wait. Finally, the doctor said that we had 3 completely normal embryos for transplantation, of which 1 embryo was transferred. I finally succeeded in pregnancy. After term, my lovely baby was born through cesarean section.
Detection of 442 single-gene inherited diseases in 13 major systems to avoid the birth with single-gene recessive inherited diseases
Detection of 20 single-gene inherited diseases to avoid the birth with single-gene recessive inherited diseases
Optimization for the embryo selection and implantation priority
Comprehensively identify embryo chromosome aneuploidy to improve the success rate of IVF