Current status of newborn deafness gene screeningin parts of China

Objective:To analyze the current status of newborn deafness gene screening from 2016 to 2017 in multiple regions of China, and to provide a reference for further promotion and application. Method:The "newborn deafness gene screening questionnaire" was sent to 41 institutions in eastern, central and western China after expert demonstration. The survey content included status of genetic screening, screening methods, the number of screenings, and the status of positive detections from January 1st, 2016 to December 31th, 2017. Each institution returned the questionnaire, the investigator conducted data verification and quality sampling. Finally, we performed analysis of screening methods and the positive detection rate of each gene on questionnaires with complete data. Result:Forty-one questionnaires were sent out and 41 were returned, the questionnaire return rate was 100%, in which 12 questionnaires were complete. Of the 41 institutions, 15 carried newborn deafness gene screening, with a rate of 36.59%（15/41）. The highest rate was in the east（72.22%, 13/18）, and the differences among the regions were statistically significant. As for the screening methods, among 12 questionnaires with complete data, 9 variants in 4 genes and 20 variants in 4 genes accounted for the highest proportion, both with the rate of 33.33%（4/12）, followed by 15 variants in 4 genes（25%, 3/12） and 5 variants in 3 genes（8.34%, 1/12）. A total of 340, 521 neonates were included in the study, and 17, 036 were positive for screening, with a positive rate of 5.00%. Among them, the single heterozygous mutation rate of GJB2 gene was 2.43%（8269/340, 521）, the biallele mutation rate was 0.02%（56/340, 521）,the single heterozygous mutation rate of SLC26A4 gene was 1.99%（6771/340, 521）, the biallele mutation rate was 0.01%（39/340, 521）,the single heterozygous mutation rate of GJB3 gene was 0.33%（1140/340, 521）, the mitochondrial 12SrRNA gene mutation rate was 0.22%（746/340, 521） and the double-gene heterozygous mutation rate was 0.004%（15/340, 521）. Conclusion:From 2016 to 2017, the newborn deafness gene screening is more extensive in the eastern region of China than in the central and western regions. In institutions that have carried out deafness gene screening, 9 variants in 4 genes and 20 variants in 4 genes are widely used; the GJB2 gene and SLC26A4 gene mutations are the most common. The results could provide references for areas where deafness gene screening is about to be performed.