Newborn hereditary deafness genetic screening in Nantong city: a prospective cohort study_Chinese Journal of Evidence-Based Medicine

Authors：

LI Muting ¹ , ZHU Qingwen ² , ZHUANG Xun ¹ , JIANG Yinhua ² , LI Chunhu ¹ , FAN Chunqin ³ , QIAN Min ⁴ ,  QIN Gang ¹

1. Department of Epidemiology and Biostatistics, School of Public Health, Nantong University, Nantong 226019, P. R. China;
2. Clinical Medicine Research Center, Nantong Maternal and Child’s Health Hospital, Nantong 226018, P. R. China;
3. Education and Research Department, Nantong First People’s Hospital, Nantong 226001, P. R. China;
4. Medical Administration Department, Nantong Sixth People’s Hospital, Nantong 226011, P. R. China;

Corresponding author：

QIN Gang, Email: tonygqin@ntu.edu.cn

Keywords：

Newborn; Hearing screening; Genetic screening; Combined screening; Cohort study

DOI：

10.7507/1672-2531.202110129

Video：

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Objective To establish a hereditary deafness genetic screening cohort and conduct prospective follow-up to evaluate the effectiveness of the Nantong newborn genetic deafness screening program. Methods A study based on traditional screening of newborn hearing was conducted from January 2016 to June 2021. Newborns in six hospitals in Nantong were screened for 15 hotspot mutation loci in four common deafness genes. Cohort follow-up was conducted. Results A total of 40 403 newborns were included, with a carrier rate of 39.5 per 1 000 for the four common deafness genes. In total, 168 children with hearing loss (HL) were identified at screening and follow-up, of which 56.5% (95 cases) had severe or very severe HL. The detection rate of HL was significantly higher with combined screening than with traditional screening (3.0‰ vs. 3.9‰, P<0.001). All four carriers of pathogenic mutations with normal hearing developed late-onset HL within 2 years of age. At the end of follow-up, six of the polygenic heterozygous mutation carriers had congenital HL and five had late-onset HL. Carriers of polygenic heterozygous mutations were more common as compared to other carrier mutation populations (2.1% vs. 68.8%, P<0.001). In addition, 525 carriers of the SLC26A4 mutation and 118 carriers of the MT-RNR1 mutation were identified and their parents were counselled during the combined screening, and no children with HL was identified during the follow-up period. Conclusion Genetic screening for deafness improves the detection of HL at birth. It is recommended that carriers of pathogenic mutations with normal hearing at birth be followed up every 3 to 6 months until the age of 2 years. Carriers of polygenic heterozygous mutations should undergo extended screening for deafness genes and have their hearing monitored more intensively for early detection of late-onset or progressive HL.

Citation： LI Muting, ZHU Qingwen, ZHUANG Xun, JIANG Yinhua, LI Chunhu, FAN Chunqin, QIAN Min, QIN Gang. Newborn hereditary deafness genetic screening in Nantong city: a prospective cohort study. Chinese Journal of Evidence-Based Medicine, 2022, 22(3): 261-267. doi: 10.7507/1672-2531.202110129 Copy

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14.	Guo L, Xiang J, Sun L, et al. Concurrent hearing and genetic screening in a general newborn population. Hum Genet, 2020, 139(4): 521-530.
15.	姚聪, 胡艳玲, 周爱芬, 等. 武汉市部分新生儿耳聋基因与听力联合筛查结果分析. 听力学及言语疾病杂志, 2018, 26(1): 5-7.
16.	Yang JJ, Tsai CC, Hsu HM, et al. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res, 2005, 199(1-2): 22-30.
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18.	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. Genet Med, 2019, 21(11): 2614-2630.
19.	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. 中华耳鼻咽喉头颈外科杂志, 2013, 48(12): 973-977.
20.	孙毅, 刘雅琳, 刘晓莉, 等. 山东省9147例新生儿耳聋基因和听力联合筛查结果分析. 听力学及言语疾病杂志, 2020, 28(5): 510-514.
21.	陈凯, 秦刚. 先天性巨细胞病毒感染筛查策略的研究进展. 中国病毒病杂志, 2021, 11(1): 70-73.

1. 中华人民共和国卫生部. 《中国出生缺陷防治报告(2012)》问答. 中国实用乡村医生杂志, 2012, 19(20): 3-5.
2. Bussé AML, Hoeve HLJ, Nasserinejad K, et al. Prevalence of permanent neonatal hearing impairment: systematic review and Bayesian meta-analysis. Int J Audiol, 2020, 59(6): 475-485.
3. Morton CC, Nance WE. Newborn hearing screening-a silent revolution. N Engl J Med, 2006, 354(20): 2151-2164.
4. Wang Q, Xiang J, Sun J, et al. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. Genet Med, 2019, 21(10): 2231-2238.
5. 聂文英, 戚以胜. 超越新生儿听力筛查. 听力学及言语疾病杂志, 2007, (2): 107-110.
6. 中华人民共和国卫生部. 新生儿听力筛查技术规范(卫妇社发〔2010〕96号). 中国儿童保健杂志, 2011, 19(6): 574-575.
7. Olusanya BO, Davis AC, Hoffman HJ. Hearing loss grades and the International classification of functioning, disability and health. Bull World Health Organ, 2019, 97(10): 725-728.
8. 吴皓, 黄治物. 婴幼儿听力损失诊断与干预指南. 中华耳鼻咽喉头颈外科杂志, 2018, 53(3): 181-188.
9. 文铖, 黄丽辉, 解舒婷, 等. 中国部分地区新生儿耳聋基因筛查现况调查. 临床耳鼻咽喉头颈外科杂志, 2020, 34(11): 972-977.
10. Dai P, Huang LH, Wang GJ, et al. Concurrent hearing and genetic screening of 180 469 neonates with follow-up in Beijing, China. Am J Hum Genet, 2019, 105(4): 803-812.
11. 戴朴, 袁永一. 耳聋基因筛查与诊断临床解析. 北京: 人民卫生出版社, 2020.
12. 王秋菊. 新生儿聋病基因筛查—悄然的革命. 听力学及言语疾病杂志, 2008, (2): 83-88.
13. 孙磊, 郭玲. 济宁市30万例耳聋基因普遍筛查的随访研究. 中华耳科学杂志, 2019, 17(5): 676-680.
14. Guo L, Xiang J, Sun L, et al. Concurrent hearing and genetic screening in a general newborn population. Hum Genet, 2020, 139(4): 521-530.
15. 姚聪, 胡艳玲, 周爱芬, 等. 武汉市部分新生儿耳聋基因与听力联合筛查结果分析. 听力学及言语疾病杂志, 2018, 26(1): 5-7.
16. Yang JJ, Tsai CC, Hsu HM, et al. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res, 2005, 199(1-2): 22-30.
17. Wei Q, Xu D, Chen Z, et al. Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C>T mutation in the mitochondrial 12S rRNA gene in two Chinese families. Int J Audiol, 2013, 52(2): 98-103.
18. 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. Genet Med, 2019, 21(11): 2614-2630.
19. 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. 中华耳鼻咽喉头颈外科杂志, 2013, 48(12): 973-977.
20. 孙毅, 刘雅琳, 刘晓莉, 等. 山东省9147例新生儿耳聋基因和听力联合筛查结果分析. 听力学及言语疾病杂志, 2020, 28(5): 510-514.
21. 陈凯, 秦刚. 先天性巨细胞病毒感染筛查策略的研究进展. 中国病毒病杂志, 2021, 11(1): 70-73.

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