Objective  To explore the operation status and effect of the neonatal deafness gene screeningin Beijing Union Medical College Hospital for the past 10 years and analyze the follow-up, genetic consultation and intervention to improve the quality of neonatal deafness gene screening.

  Methods  From April 2012 to March 2022, the screening data of newborns with deafness genetic screening by microarray microarray in Peking Union Medical College Hospital, and the data from the genetic counseling clinic of Peking Union Medical College Hospital were retrospectively collected. The mutation loci, mutation types, genetic clinic visits and follow-up interventions of newborns who did not pass the deafness genetic screening were analyzed.

  Results  Among 165 813 newborns, 8019 samples "failed" in the screening, accounting for 4.84%. Of the "failed" samples, 4173 cases carried GJB2 gene mutation, with a carrying rate of 2.52%; 3016 cases carried SLC26A4 gene mutation, with a carrying rate of 1.82%;570 cases carried GJB3 gene mutation, with a carrying rate of 0.34%; 405 cases carried homogeneous or heterogeneous mutation in 12S rRNA, with a carrying rate of 0.24%. During the screening, multiple mutation carriers were identified in 126 cases, all of whom had normal hearing at follow-up and were not given special intervention; 44 cases of deafness causing genotypes (except those at risk of drug-induced hearing loss), all of whom were given different interventions according to the degree of hearing loss; the presence of drug-sensitive deafness genotype was found in 405 cases, all of which were warned by drug warning cards for newborns and their maternal family members about drug use. The overall lost follow-up rate was 0.12%(204/165 813), and the overall genetic counselling rate of newborns who failed the screening was 46.10%(3697/8019). Among them, the lost rate of the first stage (from April 2012 to March 2013), the second stage (from April 2013 to December 2017) and the third stage (from January 2018 to March 2022) were 0.63%(72/11 489), 0.10%(80/81 663) and 0.07%(52/72 661), respectively. The visiting rate of genetic clinic was 38.05%(207/544), 39.44% (1496/3793) and 54.16%(1994/3682), respectively. The Cochran-Armitage trend test showed that the lost rate progressively lowered and the visiting rate gradually increased in the 3 stages (all P < 0.001).

  Conclusion  In the past 10 years, a thorough screening, follow-up, consultation and intervention platform has been established, which can help us in the early warning, early diagnosis and early intervention of families and individuals at risk of hearing impairment.