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张春.新生儿听力与聋病易感基因联合筛查在新生儿听力随访工作中的价值[J].中国医药科学,2023,(1):4-7        基金项目:[基金项目]广西壮族自治区卫生健康委员会科研课题(Z20210629)
新生儿听力与聋病易感基因联合筛查在新生儿听力随访工作中的价值
Significance of combined screening of neonatal hearing and deafness susceptibility genes in neonatal hearing follow-up
  
DOI:
中文关键词:  新生儿;听力与聋病;易感基因;筛查;随访
英文关键词:Neonate; Hearing and deafness; Susceptibility gene; Screening; Follow-up
作者单位
张春 广西壮族自治区人民医院产科,广西南宁 530021 
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中文摘要:
      [摘要] 目的 探讨新生儿听力与聋病易感基因联合筛查在新生儿听力随访工作中的价值。 方法 选取2018年12月至2021年12月广西壮族自治区人民医院出生的新生儿10 241例,均进行新生儿听力与聋病易感基因联合筛查,最终204例新生儿定期随访。分析新生儿听力与聋病易感基因联合筛查的结果、3个月实施听力学诊断的基因检测结果以及随访对象的随访和失访情况。 结果 通过听力初筛者中,复合杂合突变8例,纯合突变18例,杂合突变440例;而未通过初筛者中,复合杂合突变2例,纯合突变2例,杂合突变81例;听力初筛正常的新生儿的易感基因均高于不同基因突变的新生儿(P=0.029);204例听力学诊断中确诊听力损失125例;完成随访人员为159例,失访人员为45例。 结论 在新生儿听力随访工作中,新生儿听力与聋病易感基因联合筛查效果理想,临床上可进一步推广应用。
英文摘要:
      [Abstract] Objective To investigate the significance of combined screening of neonatal hearing and deafness susceptibility genes in neonatal hearing follow-up. Methods A total of 10 241 neonates born in the People’s Hospital of Guangxi Zhuang Autonomous Region from December 2018 to December 2021 were selected, and all of them were jointly screened for hearing and deafness susceptibility genes. Finally, 204 neonates were followed up regularly. The results of combined screening of neonatal hearing and deafness susceptibility genes, the results of genetic examination of audiology diagnoses in 3 months, and the follow-up and loss to follow-up subjects were analyzed. Results In those who passed the preliminary hearing screening, there were 8 cases of compound heterozygous mutation, 18 cases of homozygous mutation and 440 cases of heterozygous mutation. However, in those who failed the preliminary screening, there were 2 compound heterozygous mutations, 2 homozygous mutations and 81 heterozygous mutations. The susceptibility genes of neonates with normal hearing preliminary screening were higher than those with different gene mutations (P=0.029). Among the 204 audiology diagnoses, 125 cases were diagnosed with hearing loss. 159 cases completed follow-up, while 45 cases were lost. Conclusion In the follow-up work on neonatal hearing, the combined screening effect of neonatal hearing and deafness susceptibility genes has an ideal effect, which should be further promoted and applied clinically.
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