关键词: 新生儿, 听力, 耳聋基因, 筛查

Abstract: Objective To explore and analyze the results of hearing screening combined with deafness gene screening among neonates in Nanjing. Methods Neonates delivered at the Department of Obstetrics and Gynecology of Nanjing Jiangning Hospital,Nanjing Drum Tower Hospital,and Nanjing Hospital of Chinese Medicine from January 2020 to December 2022 were selected to conduct hearing screening combined with deafness gene screening. Otoacoustic emission and automatic auditory brainstem response were used for hearing screening. Deafness gene screening was performed to detect GJB2 gene,GJB3 gene,SLC26A4 gene,and mitochondrial 12SrRNA. Results A total of 13 256 neonates were included in this study,including 6 870 males and 6 386 females. There were 658 neonates identified with deafness gene mutation,resulting in a detection rate of 4.96%. Among them,there were 656 cases exhibiting single locus mutation across four genes,with a detection rate of 4.90%. Specifically,there were 382 neonates presenting GJB2 gene mutation with a mutation rate of 2.88%,while the occurrence of GJB3 and SLC264A gene mutations was observed in 34 neonates （mutation rate：0.26%）and 212 neonates （mutation rate：1.60%）,respectively. Additionally,mitochondrial DNA mutation was found in 22 neonates at a frequency of 0.17%. Furthermore,double/double-gene heterozygous mutations accounted for only 10 cases （mutation rate：0.08%）,including 6 cases of GJB2-235/GJB2-299 double heterozygous mutations （mutation rate：0.05%）and 4 cases of GJB3/SLC26A4 double-gene heterozygous mutations （mutation rate：0.03%）. Among 658 neonates with deafness gene mutation,12 cases were diagnosed with hearing loss,and the detection rate was 1.82%. Among 12 598 neonates without deafness gene mutation,12 cases were diagnosed with hearing loss after hearing screening and re-screening,and the detection rate was 0.10%. The detection rate of hearing loss in neonates with deafness gene mutation was significantly higher than that in neonates without deafness gene mutation （P<0.01）. The detection rate of hearing loss was significantly higher in neonates with preterm birth and external ear deformity （both P < 0.01）. Conclusions GJB2 gene and SLC264A gene are the main mutation types of deafness gene in neonates in Nanjing. Hearing screening combined with deafness gene screening can significantly improve the detection rate of hereditary deafness in neonates,which is conducive to early prevention and treatment.

Key words: Neonates, Hearing, Deafness gene, Screening