Deafness genetic prenatal screening process

  At present, hearing loss is a common birth defect, ranking first among the five disabilities (hearing, vision, physical, intellectual and mental disabilities). According to incomplete statistics, there are about 2~3 deaf babies in every 1000 newborns in China, and the incidence of hearing loss in newborns is 2~3‰, which is much higher than the incidence of other diseases in newborns.  The Department of Obstetrics and Gynecology of the PLA General Hospital has included deafness gene screening as part of its prenatal screening program, and primary prevention of hereditary deafness can be achieved by prenatal screening of women for deafness genes during pregnancy. Since the carrier rate of common deafness gene mutation in Chinese is very high (6%), deafness gene screening for young couples before marriage or childbirth can identify drug deafness sensitive individuals and couples in which both partners are carriers of the same deafness mutation at an early stage, and can effectively prevent the occurrence of deafness through follow-up guidance and intervention. The PLA General Hospital screened 3,000 pregnant individuals for common deafness genes and found that 146 individuals carried the deafness gene mutation, with a carrier rate of 4.9%. Further analysis revealed that 12 families were at risk of having a child with hereditary deafness, and after guidance and intervention, these families were prevented from having deaf offspring.  Screening process: Screening subjects will first receive an informed consent form from the obstetrics clinic of PLA General Hospital. After the informed consent form is completed, 2 ml of venous blood will be drawn from the comprehensive treatment room on the 3rd floor (fasting is not required), and the test results will be collected from the Molecular Diagnostic Center for Deafness on the 4th floor of the Ear, Nose and Throat Institute approximately 10 days later. If the result is abnormal, we will inform you by phone immediately and guide you on further testing methods; Screening candidates: 1.