| Background:Deafness is a common cause of impairment of human health and disability.It is also one of the diseases that endanger children's physical and mental health.Studies at home and abroad show that the incidence of bilateral hearing impairment is about0.1%-0.3%in normal newborns,and the incidence of bilateral hearing impairment in some countries or regions is rising gradually[1].According to the"Report on Prevention and Treatment of Birth Defects in China"published by the Ministry of Health in 2012,50%to 60%of children with congenital hearing impairment are genetic factors,indicating that genetic factors are important factors affecting the occurrence and development of neonatal hearing impairment[2].With the development of hearing screening for newborns and children and the accumulation of many years of clinical experience in the diagnosis and treatment of hearing impairment,it is gradually found that the conventional hearing screening model recommended by the Technical Specification for Newborn Hearing Screening has some limitations,and may miss a considerable number of children with delayed,progressive and drug-sensitive deafness.More and more authoritative research shows that extensive combined screening of hearing and deafness genes is the most powerful strategy for finding latent high-risk hearing impaired children[3].Through the combined screening of deafness genes and hearing,early treatment and rehabilitation guidance can be given to the families of children with confirmed hearing impairment,so as to make the children deaf but not dumb;Early warning and hearing management knowledge education can be given to the carriers of deafness susceptibility genes,so as to effectively prevent and delay the occurrence of deafness;At the same time,the families of children with confirmed hearing impairment and gene carriers can be left behind.Communication and consultation,marriage and childbearing guidance,to avoid the birth of deaf children,so as to achieve the first-level prevention of deafness[4].In Luoyang,Henan Province,there is still a lack of large sample of molecular epidemiological data of synchronous screening of newborn hearing and deafness susceptibility genes in the whole city;There is still a lack of practical experienc e and specific procedures of synchronous screening,follow-up after screening and auditory management of children with confirmed diagnosis in grass-roots hospitals;And there is still a lack of experience and methods of individualized genetic counseling for children with positive deafness gene screening.Objective:1.To analyze the current situation of clinical popularization of synchronous screening of newborn hearing and deafness genes in Luoyang,Henan Province,and to find out the problems existing in the concrete implementation process of synchronous screening,comprehensive diagnosis after screening and genetic counseling at the present stage,and to explore solutions,so as to provide practical basis for the widespread development of synchronous screening in Luoyang in the future.2.To collect the molecular epidemiological data of simultaneous screening of neonatal hearing and deafness susceptibility genes in Luoyang,Henan Province,and to understand the common types and carrying rates of responsible gene mutations in neonatal deafness at this stage,and to improve the database of gene screening for deafness in China,so as to provide data support and reference for clinical diagnosis and treatment of hearing impairment.3.It was found that the delayed,progressive and drug-sensitive people who were missed in routine hearing screening should be given early warning to high-risk infants and their families,and the hearing management including audiological monitoring should be continued to prevent or delay the occurrence of hearing loss and speech communication disorders.Methods:From September 2016 to September 2018,27900 newborns born in Luoyang city and surrounding counties were screened and re-screened by screening otoacoustic emission and automatic auditory brainstem evoked potentials.9068 newborns were randomly selected and 9 hot spot mutations of 4 common deafness responsibility genes were detected by microarray chip method[mitochondrial 12SrRNA?m.1555A>G,m.1494?.Synchronized gene screening was performed in GJB2?c.235 delC,c.299 300delAT,c.35 delG,c.176 191del16?,SLC26A4?c.2168 A>G,IVS7-2 A>G?,GJB3 c.538C>T).The newborns who did not pass the re-screening of hearing and those who were positive for gene screening were followed up by telephone to guide their audiological and genetic diagnosis and intervention within 3 months of age.The results were analyzed by SPSS21.0 statistical software.Results:Among 27900 newborns,26537 received hearing screening.The initial screening rate was 95.11%?26537/27900?,the positive rate was 5.58%?1481/26537?,43 cases were finally diagnosed with hearing impairment,and the detection rate of hearing impairment was 0.15%?43/27900?.9068 newborns were screened for deafness gene in the same period,the screening rate was 32.50%?9068/27900?,and the overall positive rate of gene screening was 5.00%?453/9068?.GJB2 gene,SLC26A4 gene,GJB3 gene and mitochondrial DNA 12S rRNA gene had the highest mutation rate,among which229 cases had GJB2 gene mutation,the positive carrier rate was 2.53%?229/9068?,the most common mutation site was c.235 delC heterozygous mutation,133 cases had SLC26A4 gene mutation,the positive carrier rate was 1.47%?133/9068?,and the most common mutation site was IVS7-2A>G heterozygous mutation.GJB3 538C>T heterozygous mutation was found in 45 cases,with a positive carrier rate of 0.50%?45/9068?;mitochondrial DNA 12S rRNA gene mutation in 21 cases,with a positive carrier rate of 0.23%?21/9068?;the most common mutation type was m.1555A>G heterozygous mutation;double gene mutation and single gene compound heterozygous mutation in 25 cases,with a positive carrier rate of 0.28%?25/9068?.Fourteen children were finally diagnosed by synchronous screening process.The detection rate of hearing impairment was 0.15%?14/9068?.453 cases of gene positive children were followed up by telephone.The follow-up period ranged from 3 to 26 months.The success rate of follow-up was 81.68%?370/453?.Among them,0.44%?2/453?children received comprehensive diagnosis of hearing and gene,5.74%?26/453?children received audiological diagnosis,43.49%?197/453?parents of children were wait-and-see attitude,and had not yet made diagnosis and intervention.29.14%?132/453?parents of children did not understand the purpose and significance of deafness gene screening.Except for the lost visits and confirmed cases,the hearing and speech development of other newborns belong to the normal range of children of the same age.Conclusion:1.The positive rate of gene screening for neonatal deafness in Luoyang area is higher than the national average at the same time.It is necessary to conduct universal joint screening for all neonates in Luoyang area as soon as possible.The most common genes responsible for deafness and their mutation types were GJB2 235 delC heterozygous mutation,SLC26A4 IVS7-2A>G heterozygous mutation,GJB3 538C>T heterozygous mutation,mitochondrial DNA 12S rRNA gene m.1555A>G heterozygous mutation.2.Neonatal deafness gene screening and hearing screening complement each other,especially for drug sensitivity,progressive and delayed deafness children play an early detection and early warning role,suitable for promotion in this region.3.The coverage of synchronous screening of hearing and deafness genes in Luoyang is low,the screening process and quality control network have not yet been established,and the follow-up and genetic counseling work after synchronous screening in Luoyang is backward,which leads to the widespread phenomenon of screening but not screening,which is the focus of future work improvement. |
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