Objective To evaluate screening effect and potential application of a new screening model – routine detections combined with genetic screening for newborn hearing screening in Nantong city.
Methods A “4-stage” hearing and genetic screening program was established and performed among 39 923 newborns in six hospitals in Nantong city of Jiangsu province from January 2016 through December 2020. Follow-up surveys were also conducted among all the newborns.
Results Complete data on 35 920 newborns were included in the analysis. Of all the newborns screened, 4.20‰ (151) were diagnosed with hearing loss (HL) and genetic mutations were detected among 76 of the HL cases. The proportion of the newborns carrying mutated deafness-related genes was 39.98‰ based on limited genetic screening in all the newborns, with the top four mutations of GJB2 235delC, SLC26A4 IVS7-2, GJB2 299_300delAT, and GJB2 176_191del16. In contrast to routine screening, totally 33 more HL cases and 588 carriers of late-onset HL susceptibility genes were identified with the "4-stage" screening program. Among 93 HL infants being negative in limited genetic screening, 18 (19.35%) were detected with pathogenic gene mutations in further expanded genetic screening and 13 of the 18 mutation carriers suffered from severe or profound HL. In the follow-up survey up to June 30, 2021, 12 late-onset HL cases were identified, of which, 10 were deafness-related mutation carriers.
Conclusion The novel newborn hearing screening model is more comprehensive and effective compared to routine screening, suggesting that newborn hearing screening combined with genetic screening could be promoted.
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