Clinic research on combined hearing and deafness susceptivity genes screening among newborns with high risk factors
ZHANG Zhang,DAI Yi-heng,LI Zhen-an,et al
ZHANG Zhang 1,DAI Yi-heng 1,LI Zhen-an 2,YU Feng-ci 2,LIU Ying 2((1.Department of Neonatology, Affiliated Foshan Women and Children Hospital,Southern Medical University.Guangdong 528000; 2. Otolaryngology Department, Affiliated Foshan Women and Children Hospital,Southern Medical University.Guangdong Foshan 528000, China)
Abstract: Objective To investigate the clinic significance of combining the original hearing screening with deafness susceptibility genes screening among newborns with high risk factors. Method 920 newborns with hearing loss risk factors from the neonatology ward were chosen as the study group, and 938 healthy newborns from the Maternity ward were chosen as the control group. Films of heel blood in both groups were collected to test. Eight mutations of the three genes (GJB2 35delG, 176-191del16, 235delC, 299-300delAT; SLC26A4 IVS7-2A>G, 2168A>G; MT 12SrRNA 1494C >T, 1555A >G) were detected. Newborns in Both groups were received hearing screening.Audiology diagnosis would be applied for those who failed to pass the hearing screening when they were 3 months old. Results In the study group, 35(3.8%) newborns were deafness predisposing gene carriers. 34(3.7%) newborns were diagnosed as hearing loss and 15(1.6%) of themwere diagnosed as severe hearing loss. 30(85.7%) carriers of deafness predisposing gene passed the hearing screening.In the control group 21(22.3%) newborns were deafness predisposing gene carriers. 4(0.4%) were diagnosed as hearing loss, and 1(0.1%) were diagnosed as severe hearing loss. 17(1.8%) carriers of deafness predisposing gene passed the hearing screening. The Overall carrier frequency of three genes and detection rate of hearing loss or severe hearing loss were significantly different in the study group than in the control group. The rate of deafness predisposing gene carriers who passed the hearing screening was significantly different in study group from in control group. Conclusions The occurrence rate of hearing loss and carrying rate of deafness gene mutation among newborns with high risks are higher than those healthy newborns. Combining newborns hearing screening with deafness susceptibility genes screening can help to identify newborns who may pass the regular hearing screening but with high deafness risks and late-onset deafness susceptibility. It is of guiding significance to early intervention, regular follow-up and deafness preventing
张章 戴怡蘅 李振安 等. 高危新生儿听力和聋病易感基因联合筛查临床研究[J]. 发育医学电子杂志, 2015, 3(4): 219-224.
ZHANG Zhang, DAI Yi-heng, LI Zhen-an, et al. Clinic research on combined hearing and deafness susceptivity genes screening among newborns with high risk factors. Journal of Developmental Medicine(Electronic Version), 2015, 3(4): 219-224.
2015, Vol. 3 
