Abstract:The tertiary prevention strategy is the basic way to prevent and treat hereditary deafness, and the primary prevention is the principal preventive measure. The main contents include deafness gene screening among broad population and gene diagnosis among high-risk group, and specific strategies contain pre-pregnancy guidance for couples with deaf gene mutations, fertility guidance for deaf couples, medication and life guidance for people who are susceptible to environmental deafness factors, and effectively preventing the birth of deaf children through preimplantation genetic diagnosis. Secondary prevention mainly includes genetic screening of maternal deafness during pregnancy and prenatal diagnosis so as to detect early and carry out deaf disease intervention. Tertiary prevention refers to early detection, early diagnosis and early intervention for deaf children. On the basis of early detection, gene therapy, surgery, drug prevention, and hearing and speech rehabilitation are used to achieve the development of speech, intelligence, and cognitive functions for deaf children. This article reviews the progress in tertiary prevention strategies for hereditary hearing loss.
[1] Vona B, Müller M, Dofek S, et al. A big data perspective on the genomics of hearing loss[J]. Laryngorhinootologie, 2019, 98(S 01):S32-S81. [2] 《遗传性耳聋基因变异筛查技术专家共识》专家组, 国家卫生健康委员会临床检验中心产前筛查与诊断实验室室间质评专家委员会, 国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查实验室室间质评专家委员会.遗传性耳聋基因变异筛查技术专家共识[J].中华医学遗传学杂志,2019,36(3):195-198. [3] 袁永一, 戴朴. 遗传性聋的精准医疗[J].临床耳鼻咽喉头颈外科杂志, 2016, 30(1):1-5. [4] 袁涛,曾祥丽.新生儿耳聋防控体系建设的历程与现状(Ⅱ):遗传性聋的三级预防[J].听力学及言语疾病杂志,2018,26(4):442-447. [5] Alekseyev YO, Fazeli R, Yang S, et al. A next-generation sequencing primer-how does it work and what can it do[J].Acad Pathol, 2018, 5:2374289518766521. [6] Talebi F, Ghanbari Mardasi F, Mohammadi Asl J, et al. Identification of novel PTPRQ and MYO1A mutations in an Iranian pedigree with autosomal recessive hearing loss[J].Cell J, 2018, 20(1):127-131. [7] Giani AM, Gallo GR, Gianfranceschi L, et al. Long walk to genomics: history and current approaches to genome sequencing and assembly[J].Comput Struct Biotechnol J, 2019, 18:9-19. [8] 满荣军,郭玉芬,刘晓雯,等.新疆少数民族和汉族聋哑学生GJB2基因和线粒体DNA 12SrRNA A1555G突变研究[J].中国耳鼻咽喉头颈外科,2009,16(4):190-193. [9] 高儒真,牛晓敏,杨腾裕,等.常见位点筛查在耳聋遗传咨询门诊应用现状[J].中华耳科学杂志,2020,18(2):225-231. [10] McDermott JH, Molina-Ramírez LP, Bruce IA, et al. Diagnosing and preventing hearing loss in the genomic age[J].Trends Hear, 2019, 23:2331216519878983. [11] 戴朴,袁永一.基于基因筛查和诊断的耳聋出生缺陷三级预防[J].中华耳鼻咽喉头颈外科杂志,2013,48(12):973-977. [12] Fang Y, Gu MS, Suo F, et al. Application of gene detection technique in the antenatal diagnosis of hereditary hearing loss[J]. Eur Rev Med Pharmacol Sci, 2017, 21(7):1452-1455. [13] 袁永一,戴朴.遗传性耳聋规范化筛查与诊断的探讨[J].中华耳科学杂志,2019,17(5):611-615. [14] Chen HF, Chen SU, Ma GC, et al. Preimplantation genetic diagnosis and screening: current status and future challenges[J]. J Formos Med Assoc, 2018, 117(2):94-100. [15] 熊文萍,王秋菊.胚胎移植前遗传学诊断及在遗传性耳聋中的应用[J].中华耳科学杂志,2015,13(2):273-277. [16] Altarescu G,Eldar-Geva T,Brooks B,et al. Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy[J]. J Assist Reprod Genet, 2009, 26(7):391-397. [17] Wu CC, Lin SY, Su YN, et al. Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation[J]. Audiol Neurootol, 2010, 15(5):311-317. [18] Luo H, Chen C, Yang Y, et al. Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis[J]. BMC Med Genomics, 2019, 12(1):157. [19] Hao Y, Chen D, Zhang Z, et al. Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform[J]. Oncol Lett, 2018, 15(4):4296-4302. [20] Kane SC, Willats E, Bezerra Maia E Holanda Moura S, et al. Preimplantation genetic screening techniques: implications for clinical prenatal diagnosis[J].Fetal Diagn Ther, 2016, 40(4):241-254. [21] 曾玉坤,刘玲,丁红珂,等.针对孕期耳聋基因突变携带者配偶行相应基因测序在降低出生缺陷中的意义研究[J].中国产前诊断杂志(电子版),2017,9(2):22-25. [22] 袁永一,王国建.遗传性耳聋诊治预防常见问题解答[J].中国听力语言康复科学杂志,2016,14(z1):7-9. [23] 杨锴,戚红,黄莎莎,等.孕期遗传性耳聋热点致病基因突变筛查及高风险妊娠的产前诊断[J].中华耳鼻咽喉头颈外科杂志,2018,53(9):645-649. [24] 韩明昱,卢彦平,边旭明,等.213个遗传性耳聋家庭的产前诊断和生育指导[J].中华耳鼻咽喉头颈外科杂志,2012,47(2):127-131. [25] Deng Y, Sang S, Wen J, et al. Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families[J]. Int J Pediatr Otorhinolaryngol, 2018, 115:114-119. [26] Levy B, Stosic M. Traditional prenatal diagnosis: past to present[J]. Methods Mol Biol, 2019, 1885:3-22. [27] Geppert J, Stinton C, Johnson S, et al. Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: a systematic review and meta-analysis[J]. Prenat Diagn, 2020, 40(4):454-462. [28] Meng M, Huo R, Han MY, et al. Detection of common deafness mutation by maternal plasma cell-free DNA[J]. Eur Rev Med Pharmacol Sci, 2014, 18(10):1544-1548. [29] Huang S, Huang B, Wang G, et al. The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population[J]. Int J Pediatr Otorhinolaryngol, 2017, 102:67-70. [30] 吴皓,黄治物,杨涛.先天性耳聋三级防控体系建设[J].听力学及言语疾病杂志,2017,25(1):1-4. [31] Long Y, Liu H, Li Y, et al. Early auditory skills development in Mandarin speaking children after bilateral cochlear implantation[J]. Int J Pediatr Otorhinolaryngol, 2018, 114:153-158. [32] Jount Committee on Infant Hearing. Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs[J]. Am J Audiol, 2000, 9(1):9-29. [33] Martínez-Cruz CF, Poblano A, García-Alonso Themann P. Changes in tonal audiometry in children with progressive sensorineural hearing loss and history of Neonatal Intensive Care Unit discharge. A 20 year long-term follow-up[J]. Int J Pediatr Otorhinolaryngol, 2017, 101:235-240. [34] Shearer AE, Shen J, Amr S, et al. A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children[J]. Genet Med, 2019, 21(11):2614-2630. [35] Iseli C, Buchman CA. Management of children with severe, severe-profound, and profound sensorineural hearing loss[J].Otolaryngol Clin North Am, 2015, 48(6):995-1010. [36] 张静,黄远,黄恒,等.25 684例新生儿听力筛查结果分析[J].听力学及言语疾病杂志,2019,27(5):487-490. [37] 韩优莉,黄丽辉,张巍,等.北京市三阶段新生儿听力筛查成本效果分析[J].中华流行病学杂志,2015,36(5):455-459. [38] Sharma R,Gu Y,Ching TYC,et al. Economic evaluations of childhood hearing loss screening programmes: a systematic review and critique[J]. Appl Health Econ Health Policy, 2019, 17(3):331-357. [39] 李红娟,王雅莉,杨艳.1 024例新生儿耳聋易感基因携带情况调查[J].实用预防医学,2018,25(1):87-89. [40] 李卉,高唐鑫子,吴丹,等.新生儿耳聋基因联合听力筛查结果分析[J].国际检验医学杂志,2019,40(18):2223-2226.