Association between initial hearing screening failure in newborns and combined deafness susceptibili-ty gene screening
10.3969/j.issn.1006-7299.2025.04.013
- VernacularTitle:听力初筛未通过新生儿听力联合耳聋易感基因筛查的关联性分析
- Author:
Yuanyuan LIU
1
;
Yichen LI
;
Hui CHEN
Author Information
1. 首都医科大学生物医学工程学院(北京 100069);北京市普仁医院耳鼻咽喉科(北京 100062)
- Publication Type:Journal Article
- Keywords:
Hearing screening;
Deafness;
Genes;
Newborns;
Association rule mining
- From:
Journal of Audiology and Speech Pathology
2025;33(4):363-367
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the distribution and characteristics of hearing and deafness susceptibility genes in newborns who failed the initial hearing screening,and to explore the association rules for those referred the re-screening.Methods A multicenter retrospective cohort study conducted in 12 339 infants who failed the initial hearing screening in Beijing.Data analysis was conducted on the results of genetic screening for deafness susceptibil-ity genes and the results of the hearing re-screening and diagnosis.The Apriori algorithm was utilized to mine strong association rules related to the failure of the hearing re-screening.Results The detection rate of deafness suscepti-bility gene mutations was 7.14％(881/12 339),withGJB2,SLC26A4,GJB3,and MT-RNR1 being the most fre-quently identified genes.The positive predictive values for initial hearing screening and re-screening referred were 15.93％(1 965/12 339)and 17.87％(226/1 265).Association rule mining revealed that newborns who referred the initial hearing screening in both ears and had twins/multiple births,NICU admission,and deafness gene muta-tion detection had relatively increased risks of 4.47％,9.25％,and 16.72％.Newborns with deafness gene muta-tion detection who referred the initial hearing screening in both ears and female newborns had relatively increased risks of 3.99％and 12.60％who referred the hearing re-screening.Conclusion Newborns who fail the initial hear-ing screening have a relatively high detection rate of deafness susceptibility gene mutations.Those who fail initial bi-lateral hearing screening and have detected deafness gene mutations are at a significantly increased risk of failing the hearing rescreening.
