| 刘咏梅,冯会颖,殷美乐,等.高通量测序技术联合瞬态诱发性耳声发射技术在新生儿遗传性聋筛查中的应用价值研究[J].安徽医药,2023,27(7):1359-1363. |
| 高通量测序技术联合瞬态诱发性耳声发射技术在新生儿遗传性聋筛查中的应用价值研究 |
| Study on the application value of high-throughput sequencing combined with transient evoked otoacoustic emission technology in the screening of newborns for genetic deafness |
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| DOI：10.3969/j.issn.1009-6469.2023.07.019 |
| 中文关键词: 先天性遗传性新生儿疾病和畸形 聋 新生儿筛查 瞬态诱发性耳声发射技术 高通量核苷酸序列分析 |
| 英文关键词: Congenital,hereditary,and neonatal diseases and abnormalities Deafness Neonatal screening Transient evoked otoacoustic emission technology High-throughput nucleotide sequencing |
| 基金项目:河北省科学技术与发展研究课题计划( 201706A026) |
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| 中文摘要: |
| 目的探究高通量测序(NGS)技术联合瞬态诱发性耳声发射(TEOAE)技术在新生儿遗传性聋筛查中的应用价值。方法采用整群随机抽样方法，根据纳入、排除标准选取 2018年 1月至 2020年 10月承德市中心医院 625例新生儿作为研究对象，均于出生后 3～7d内行新生儿遗传性聋筛查，筛查方法采用 NGS技术和 TEOAE技术，并于出生后 1个月、 2个月采用 TEOAE技术进行第 1、2次复筛，统计 NGS技术、 TEOAE技术筛查结果，分析 NGS技术联合 TEOAE技术筛查新生儿遗传性聋的价值。结果本组共纳入 625例新生儿， NGS技术筛查结果显示 6.08%存在耳聋基因异常，主要为 GJB2基因( 2.40%)、 SLC26A4基因( 2.72%)异常， 0.80%存在 ≥2个耳聋基因位点异常； TEOAE技术初筛 8.48%的新生儿未通过，第 1次、 2次复筛未通过率分别为 6.40%、5.12%；NGS技术、 TEOAE技术筛查新生儿遗传性聋的曲线下面积( AUC)分别为 0.920、0.880，二者联合筛查的 AUC最大，为 0.976，联合筛查的灵敏度、特异度分别为 95.65%、99.50%。结论 NGS技术、 TEOAE技术均为新生儿遗传性聋筛查的有效方法，二者联合能有效提高筛查效能，减少误诊漏诊。 |
| 英文摘要: |
| Objective To explore the application value of high-throughput sequencing (NGS) technology combined with transientevoked otoacoustic emission (TEOAE) technology in the screening of neonatal hereditary deafness.Methods Six hundred and twenty-five newborns in Chengde Central Hospital from January 2018 to October 2020 was selected as subjects by a whole-group random sampling method according to the inclusion and exclusion criteria, all of them were screened for neonatal genetic deafness within 3-7 d after birth, and the screening methods were NGS technique and TEOAE technique, and the 1st and 2nd re-screening was performed byTEOAE technique at 1 and 2 months after birth. The results of the NGS and TEOAE screening were calculated and the value of theNGS technique combined with the TEOAE technique in screening newborns for hereditary deafness was analyzed.Results A total of 625 newborns were included in this group. The NGS technology screening results showed that 6.08% had deafness gene abnormalities,mainly GJB2 gene (2.40%), SLC26A4 gene (2.72%) abnormality, 0.80% had ≥2 deafness loci Abnormal points; 8.48% of newbornsfailed the initial screening of TEOAE technology, and the failure rates of the first and second re-screening were 6.40% and 5.12% respectively; the area under the curve (AUC) of NGS technology and TEOAE technology in screening newborns for hereditary deafnesswere 0.920 and 0.880, respectively. The combined screening of the two had the largest AUC, which was 0.976. The sensitivity and specificity of the combined screening were 95.65% and 99.50%, respectively.Conclusion NGS technology and TEOAE technology areboth effective methods for neonatal hereditary deafness screening. The combination of the two can effectively improve the screening efficiency and reduce misdiagnosis and missed diagnosis. |
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