Tianjin neonatal hearing and the combination of genetic and make a diagnosis and give treatment work situation

Abstract：Objective:To sum up and analyze the results of the concurrent genetic and hearing screening in the newborn in Tianjin in the last 10 years. Methods:The neonates born in Tianjin,under the promise of the informed consent,received the hearing and deafness-associated genetic screening,including 20 hot spot mutation sites of 4 deafness-related genes(GJB2,SLC26A4, mitochondrial DNA12S rRNA and GJB3). Results:99% of the neonates born in Tianjin received the hearing screening and the result is that 2.10‰ of infants have hearing impairment. 80% of the neonates screened for deafness-associated genetic mutations with the positive rate above to 5.55%. Effective intervention was carried out for the babies with the hearing impairment when they were only 6 months old. After the early language rehabilitation,85% of the children with the hearing loss had entered into the ordinary school to learn the same as the healthy children. Conclusion:The combination of the newborn hearing and gene screening for deafness is the most effective screening strategy to decrease the incidence of hereditary hearing loss. The union screening could lay a foundation for the development of the three grade of the preventive measures reducing birth defects.