China's first successful blockade of severe genetic deafness, third generations of test tube babies were born

        At 19:43 on January 29, 2015, China's first successful blockade of severe genetic deafness, third generations of test tube babies were born. The study by General Hospital of PLA otolaryngology head and neck surgery, otolaryngology of reproductive Hospital Professor Wang Qiuju and Professor Chen Zijiang team affiliated to Shandong University joint research team completed at the same time, BGI and other relevant agencies involved in the post test. The study of IVF implantation, PGD, prenatal diagnosis, and in the pre pregnancy, pregnancy, neonatal stage of detection of fetal pregnant women and their husbands, the new generation of sequencing technology, ensure that the birth of a healthy baby. Experts say this has important scientific and social significance in reducing human genetic burden and preventing genetic diseases.
        It is understood that the newborn parents from rural areas of Hebei, both of China's genetic deafness gene GJB2 of common pathogenic carriers, first baby boy due to severe deafness received a cochlear implant, the second boy has been diagnosed with hereditary deafness, forced to choose to terminate a pregnancy. The couple are eager to have a healthy hearing baby, blocking the family's deaf and dumb luck. In August 2013, they are attracted to the Chinese PLA General Hospital, the hospital and the Affiliated Hospital of Shandong University and reproductive BGI and other force research, application of preimplantation genetic diagnosis (PGD) combined with noninvasive prenatal haplotype analysis of genetic deafness gene technology to help them achieve this dream.
        The team studied the diagnosis of deafness in the 8 embryos of the couple before they were implanted, and analyzed the genotype of the fetus after the embryo was successfully implanted. BGI in the pregnancy of non-invasive prenatal aneuploidy detection and noninvasive prenatal detection of single gene disease in the fetus at 19 weeks gestation of amniotic fluid cells of gene detection, after embryo implantation, without fetal instability after a tortuous process, finally ushered in the birth of healthy newborn hearing the. Subsequently, the Chinese big gene for the newborn single gene disease detection of newborns, after hearing screening fully equipped with normal hearing, deaf mute prevention and control, from two or three levels of prevention and control to the prevention of a landmark leap.
        It is reported that congenital deafness is a common genetic disease in Department of ENT, the incidence of neonatal 1 / 1000 - 1 / 2000. One in every 1000 newborns in China is born with deafness due to genetic defects in deafness. Among them, approximately 50% of newborn children with genetic factors, mostly autosomal recessive. An autosomal recessive trait is that people with normal hearing may be carriers of disease causing                         mutations, but because there is no outward manifestation, carriers tend to ignore the risks that may occur. 78 million people are carrying deafness causing genes across the country. If two normal hearing carriers get married, the probability of having a child is 25%. Before pregnancy to reduce genetic deafness diagnosis prevention of birth defects is very important.
        In this study, the preimplantation genetic diagnosis, early noninvasive haplotype analysis during pregnancy, peripheral blood screening and neonatal hearing screening a number of international advanced technology integration for the three prevention and health care system, passive treatment for pre active comprehensive prevention, establish a technology model can be replicated before pregnancy to exclude hereditary deafness, realization deafness fundamentally "early detection, early diagnosis and early intervention, hereditary deafness has brought the gospel to China's millions of deaf offspring prevention.
Related introduction:
        Professor Wang Qiuju team of Otorhinolaryngology Institute of Otorhinolaryngology Head and neck surgery, PLA General Hospital
        The people's Liberation Army General Hospital is a comprehensive hospital in healthcare research innovative research and teaching as one of the clinical surgery department of Otolaryngology Head and neck surgery is the national key discipline, Institute of Otolaryngology is founded by academician Jiang Sichang, the Ministry of education and the Key Laboratory of the army. The PLA otorhinolaryngology Research Institute Professor Wang Qiuju is the chief scientist of the national key basic research project, is also China's newborn hearing and gene screening of the author and advocate, the foundation is committed to genetic deafness and pathogenesis of deafness prevention and early warning research and clinical application. She led the team won the national project supported by the establishment of the information database of clinical audiology deafness with independent intellectual property rights, promote a series of studies of deafness molecular genetic mechanisms, Y genetic deafness was found for the first time in the world, the first to finish drawing the China gene map presented neuropathy disease genotype and phenotype associated with the classification diagnosis, especially first proposed and implemented a new scale warning model for newborn hearing and deafness gene screening, found in neonatal deafness gene carrying rate of 56 per thousand, and the application of combined screening concept to the country's 111 counties. Has won the first prize in China Medical Science and technology progress, the national science and technology progress two prize, and many other awards.
Professor Chen Zijiang team of affiliated reproductive Hospital of Shandong University
        Shandong University Affiliated Hospital and the state of assisted reproduction and reproductive genetic engineering technology research center is the first by the Planning Commission to carry out access technology of human assisted reproductive technology of medical institutions, the hospital chief expert Professor Chen Zijiang team innovation applied a series of assisted reproductive technology, including gamete transplantation, PCOS ultrasound hysteroscopy minimally invasive operation in both at home and abroad the first IVF success rate reached more than 55%, at the international advanced level. At present, the Institute adopted a new generation of gene sequencing technology, single cell gene amplification techniques