[1]徐咏梅.听力筛查联合遗传性耳聋基因检测在新生儿筛查中的应用[J].医学信息,2020,33(01):177-178.[doi:10.3969/j.issn.1006-1959.2020.01.059]
　XU Yong-mei.Hearing Screening Combined with Hereditary Deafness Gene Detection in Newborn Screening[J].Medical Information,2020,33(01):177-178.[doi:10.3969/j.issn.1006-1959.2020.01.059]
点击复制

听力筛查联合遗传性耳聋基因检测在新生儿筛查中的应用()
分享到：

医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
33卷
期数:
2020年01期
页码:
177-178
栏目:
诊疗技术
出版日期:
2020-01-01

文章信息/Info

Title:
Hearing Screening Combined with Hereditary Deafness Gene Detection in Newborn Screening
文章编号:
1006-1959（2020）01-0177-02
作者:
徐咏梅
（德宏州妇幼保健院检验科，云南 芒市 678400）
Author(s):
XU Yong-mei
(Department of Inspection,Dehong Prefecture Maternal and Child Health Hospital,Mangshi 678400,Yunnan,China)
关键词:
新生儿; 听力筛查; 遗传性耳聋基因检测
Keywords:
Newborn; Hearing screening; Genetic testing for genetic deafness
分类号:
R596
DOI:
10.3969/j.issn.1006-1959.2020.01.059
文献标志码:
A
摘要:
目的 探讨听力筛查联合遗传性耳聋基因检测在新生儿筛查中的应用。方法 选取2018年12月~2019年7月我院接受产检的产妇509例，对所有产妇进行遗传性耳聋基因检测，并在产妇完成分娩后48 h对新生儿作常规听力筛查，确诊新生儿是否存在听力障碍。结果 509例产妇经遗传性耳聋基因检测显示阳性16例，阳性率3.14%；听力筛查不通过同时伴有耳聋基因突变新生儿共5例，听力学诊断结合随访确诊3例新生儿存在听力障碍，包含1例GJB2 299-300delAT突变，1例GJB2 235delC突变、1例SLC26A4 919-2A＞G突变。结论 在新生儿常规听力筛查的同时提供遗传性耳聋基因检测，能够有效弥补听力筛查的不足，可用作听力筛查工作的有效补充，有助于筛查出迟发型及潜在性耳聋患儿，提升听力障碍的检出率。
Abstract:
Objective To explore the application of hearing screening combined with hereditary hearing loss gene detection in newborn screening. Methods From December 2018 to July 2019, 509 women undergoing maternity examinations in our hospital were selected. All women were tested for hereditary deafness genes, and routine hearing screening was performed on the newborns 48 h after the delivery. Whether there is hearing impairment. Results In 509 cases of maternal genetic deafness, 16 cases were positive, with a positive rate of 3.14%; 5 cases of hearing-impaired newborns with mutations in the deafness gene were identified, and 3 cases of hearing-impaired newborns were diagnosed with hearing diagnosis including 1 case GJB2 299-300delAT mutation, 1 case GJB2 235delC mutation, 1 case SLC26A4 919-2A>G mutation.Conclusion Providing genetic testing for genetic deafness at the same time as routine hearing screening for newborns can effectively make up for the shortcomings of hearing screening, and can be used as an effective supplement for hearing screening. It can help to detect late-onset and potential deafness patients,improve the detection rate of hearing impairment.

参考文献/References:

[1]郭雅琪,何学虎,张玉英,等.NICU新生儿听力筛查联合遗传性耳聋基因检测的结果分析[J].中国妇幼保健,2017,32(21):5382-5385. [2]张小娥,陈娟.NICU新生儿听力筛查联合遗传性耳聋基因检测的结果分析[J].中国优生与遗传杂志,2018,26(11):74,87-89. [3]潘拥军,蒋新液,卫雅蓉,等.新生儿听力筛查联合耳聋基因检测的应用[J].中国优生与遗传杂志,2015,23(12):66-67. [4]李天洁,梁建梅,王向东,等.听力筛查不合格新生儿的常见耳聋基因检测[J].国际生殖健康/计划生育杂志,2017,36(6):454-456. [5]余红,杨晶群,刘丹,等.8187名新生儿听力与常见耳聋基因联合筛查研究[J].中华全科医师杂志,2018,17(2):139-142.

相似文献/References:

[1]包克珍,许云丽.新生儿社区获得性肺炎的临床特征分析[J].医学信息,2018,31(02):184.[doi:10.3969/j.issn.1006-1959.2018.02.072]
　BAO Ke-zhen,XU Yun-li.Clinical Characteristics of Neonatal Community Acquired Pneumonia[J].Medical Information,2018,31(01):184.[doi:10.3969/j.issn.1006-1959.2018.02.072]
[2]王 静,姜 娟,肖 婷,等.单胎足月新生儿神经行为NBNA评分相关影响因素研究[J].医学信息,2018,31(06):74.[doi:10.3969/j.issn.1006-1959.2018.06.023]
　WANG Jing,JIANG Juan,XIAO Ting,et al.Study on the Related Factors of Neurobehavioral NBNA Score in Single Term Neonates[J].Medical Information,2018,31(01):74.[doi:10.3969/j.issn.1006-1959.2018.06.023]
[3]赵凤艳.蓝光照射联合白蛋白静脉滴注对新生儿黄疸的疗效观察[J].医学信息,2018,31(09):117.[doi:10.3969/j.issn.1006-1959.2018.09.035]
　ZHAO Feng-yan.Efficacy of Blue Light Irradiation Combined with Intravenous Drip of Albumin on Neonatal Jaundice[J].Medical Information,2018,31(01):117.[doi:10.3969/j.issn.1006-1959.2018.09.035]
[4]孙继飞,张 岚.肺表面活性物质治疗足月新生儿急性呼吸窘迫综合征疗效观察[J].医学信息,2019,32(02):121.[doi:10.3969/j.issn.1006-1959.2019.02.034]
　SUN Ji-fei,ZHANG Lan.Therapeutic Effect of Pulmonary Surfactant on Acute Respiratory Distress Syndrome in Full-term Neonates[J].Medical Information,2019,32(01):121.[doi:10.3969/j.issn.1006-1959.2019.02.034]
[5]王 晖.新生儿出生体温管理与新生儿低血糖症临床相关性[J].医学信息,2018,31(15):86.[doi:10.3969/j.issn.1006-1959.2018.15.026]
　WANG Hui.Clinical Correlation Between Neonatal Temperature Management and Neonatal Hypoglycemia[J].Medical Information,2018,31(01):86.[doi:10.3969/j.issn.1006-1959.2018.15.026]
[6]朱 滨,蒋晓宏.血清NSE、hs-CRP与头颅MRI在新生儿脑损伤严重程度的相关性研究[J].医学信息,2022,35(12):130.[doi:10.3969/j.issn.1006-1959.2022.12.031]
　ZHU Bin,JIANG Xiao-hong.Correlation Between Serum NSE, hs-CRP and Brain MRI in Neonatal Brain Injury Severity[J].Medical Information,2022,35(01):130.[doi:10.3969/j.issn.1006-1959.2022.12.031]
[7]陈海燕,陈冠初.新生儿缺血缺氧性脑病的影像学诊断现状[J].医学信息,2022,35(13):53.[doi:10.3969/j.issn.1006-1959.2022.13.011]
　CHEN Hai-yan,CHEN Guan-chu.Imaging Diagnosis of Neonatal Hypoxic Ischemic Encephalopathy[J].Medical Information,2022,35(01):53.[doi:10.3969/j.issn.1006-1959.2022.13.011]
[8]陈倩如.某院住院新生儿病种构成特点分析[J].医学信息,2019,32(05):139.[doi:10.3969/j.issn.1006-1959.2019.05.044]
　CHEN Qian-ru.Analysis of the Characteristics of Neonatal Diseases in a Hospital[J].Medical Information,2019,32(01):139.[doi:10.3969/j.issn.1006-1959.2019.05.044]
[9]江乐川.新生儿无创呼吸机防治新生儿呼吸窘迫综合征的效果[J].医学信息,2019,32(22):107.[doi:10.3969/j.issn.1006-1959.2019.22.034]
　JIANG Le-chuan.Effect of Neonatal Non-invasive Ventilator on Prevention and Treatment of Neonatal Respiratory Distress Syndrome[J].Medical Information,2019,32(01):107.[doi:10.3969/j.issn.1006-1959.2019.22.034]
[10]杨 帅.酪酸梭菌活菌散剂在治疗新生儿高胆红素血症中的作用[J].医学信息,2019,32(23):147.[doi:10.3969/j.issn.1006-1959.2019.23.045]
　YANG Shuai.The Role of Clostridium Butyricum Powder in the Treatment of Neonatal Hyperbilirubinemia[J].Medical Information,2019,32(01):147.[doi:10.3969/j.issn.1006-1959.2019.23.045]

更新日期/Last Update: 2020-01-01