New techniques make it easier to identify fetal disease-caused genes

Recently, Zhengzhou University First Affiliated Hospital Reproductive and Genetic Specialist Hospital Sun Yingying, Xu Jiawei team applied the "dual monosome chain identification fetal pathogenic gene" technology, through embryo implantation before the single gene disease diagnosis of pregnancy IVF invasory diagnosis, so that patients successfully deliver healthy babies.
single-gene genetic disease refers to a genetic disease controlled by a pair of equal genes, there are more than 8000 known human single-gene genetic diseases, although the incidence of a single disease is low, but its comprehensive incidence rate is as high as 1/100. About 95% of single-gene genetic diseases lack effective treatment. Pre-implantation Genetics Diagnostics (PGT) IVF babies can diagnose embryos before pregnancy and choose normal transplants, but amniotics need to be reviewed in the middle of pregnancy to ensure the accuracy of the diagnosis.
Sun Yingying, Xu Jiawei team long-term commitment to single-gene genetic disease clinical testing technology platform construction and research and development work, recently with Huada gene cooperation, based on the dual-monotype chain technology, developed for 69 kinds of single-gene genetic diseases of pregnant women's extraterrorial blood non-invasion gene testing DiHaLi technology. The technology only needs to extract pregnant women 3 ml to 5 ml of outer blood can meet the testing requirements, improve the accuracy of testing, expand the scope of genetic disease detection, genetic disease patients PPT IVF and natural pregnancy after genetic testing advanced to 12 weeks, to avoid another amniotic puncture, with high safety, less taboo evidence, lower cost, simple operation and so on.
hypertrophy muscular dystrophy caused by deafness and DMD gene mutation caused by the GJB2 gene mutation are two kinds of recessive genetic diseases common in China. For recessive genetic diseases with strong concealment and great harm, carry-on screening is the most effective prevention and control measure at present. Ms. Cao and her wife are both carriers of GJB2 disease-caused genes, have given birth to a deaf child, in 2014 and 2015 respectively, natural pregnancy again, mid-pregnancy prenatal genetic testing confirmed that the fetuses are carrying GJB2 gene compound heterosis mutations and to lead to childbirth. Ms. Huang, a carrier of the DMD gene mutation, gave birth to a baby boy in 2012 and was diagnosed with false hypertrophy muscular dystrophy at the age of one.
couples with genetic diseases, after receiving PPT-based IVF, extracted the outer blood of two pregnant women at 12 weeks of pregnancy, and performed high-volume sequencing analysis of the fetal free DNA, which solved the difficulty of constructing the single size of free DNA in pregnant women, combined with each family The genetic information of parents and pre-emptors builds monolith type, successfully determines the carrying of fetal-related pathogenic genes, and at the same time takes the lead in the international community in combining the nourishing layer biopsy cells of pre-implanted embryos of PPT patients to construct monolithic type again, carry out double monolithic chain analysis, and finally confirm the normal pregnancy fetus. The mother-of-two also under-tested the amnio ordnity puncture gene in the middle of her pregnancy. The results show that it is exactly consistent with the above-mentioned non-invasional test, which confirms the reliability of the non-invasional prenatal single gene disease detection technology. In the end, both mothers-to-be gave birth to a healthy baby by caesarean section, and the birth of "DiHaLi IVF Baby" marked the clinical success of the technique of "double monolithic chain identification of fetal pathogenic genes" for non-invasive genetic disease genetic testing. (Health Report)