An evaluation on newborn screening of hearing combined with deafness predisposing genes / 预防医学

ABSTRACT

Objective To evaluate the effectiveness of newborn screening of hearing combined with deafness predisposing genes. Methods Through screening,514 newborns who may had the problem of hearing were classified as experimental group and the other 1 028 newborns were classified as control group by MALDI-TOF. Detecting the predisposing genes of GJB2,GJB3,12SrRNA,SLC26A4 including 20 hot spot mutations for these newborns. Results Among 514 subjects, 40 cases were found with deafness gene mutations,and the positive rate was 7. 47%. 7 cases were pathogenic mutation(1 was GJB2 235delC homozygous mutation,6 were GJB3 538C→T heterozygous mutation ),with the rate of 1. 36%,and 33 cases were heterozygous carrier,with the rate of 6. 62%. Among the control group,45 cases were found with deafness gene mutations,and the positive rate was 4. 38%. 3 cases were pathogenic mutation(1 was 12srRNA 1555A→G homozygous mutation,1 was GJB3 538C→T heterozygous mutation,1 was GJB3 547G→A heterozygous mutation),with the rate of 0. 29%,and 42 cases were carriers of heterozygous gene,with the rate of 4. 09%. The positive rate,the pathogenic mutation rate and the heterozygous carry rate of experimental group were higher than that of control group ,and the differences were significant(all p<0. 05). Conclusion The newborns who did not pass the hearing screening should be the target population for test of the deafness predisposing genes. Since the positive rate were still high,if condition permitted,the screening of hearing combined with deafness predisposing genes should be carried out in some areas.