关键词: 耳聋基因, 听力筛查, 耳聋

Abstract:

To analyze clinical results of newborn hearing combined with genetic screening in Tianjin. Methods Newborns born in all midwifery institutions in Tianjin from January 1 to December 31, 2018, were selected as the study population, and combined newborn hearing and deafness gene screening was performed under the premise of informed and voluntary screening. Results Among the 102,570 newborns, 210 (0.2%) had different degrees of hearing impairment, including 114 cases of bilateral hearing loss and 96 cases of unilateral hearing loss. 72,866 cases were screened for deafness genes, and 3924 (5.4%) newborns were detected with genetic variants, including 146 single gene homogeneous variants, 14 single gene compound heterozygous variants, 68 multi-gene compound heterozygous and 3696 single gene heterozygous variants. The detection rates of GJB2, SLC26A4, GJB3 and mitochondrial 12SrRNA gene variants were 4.8%, 4.5%, 0.4% and 0.2%, respectively. Among the 423 children who underwent audiological diagnosis, the deafness gene variation rate was higher in the hearing impaired group than in the normal group; among the 210 hearing impaired children, the deafness gene variation rate was higher in the binaural deafness group than in the unilateral deafness group; among the 114 binaural deaf children, the deafness gene variation rate was higher in the severe to profound deafness group than in the mild to moderate deafness group, and the differences were statistically significant (P<0.05). Conclusion This study reports the incidence of hearing impairment and the detection of common deafness genes in newborns in Tianjin, and provides a reference for healthcare consultation in this region.

Key words: deafness genes, hearing screening, deafness