河北医科大学学报

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23 763例新生儿听力筛查联合耳聋基因检测在临床中的应用

  

  1. 1.河北省石家庄市妇幼保健院优生遗传科，河北 石家庄 050081；2.河北省石家庄市妇幼保健院妇二科,河北 石家庄 050081；
    3.河北省石家庄市平安医院功能科,河北 石家庄 050021；4.河北省辛集市妇幼保健院检验科,河北 石家庄 052360；
    5.河北省石家庄市妇幼保健院保健部,河北 石家庄 050081
  • 出版日期:2017-09-25 发布日期:2017-09-18
  • 作者简介:李天洁(1982-)，女，河北安国人，河北省石家庄市妇幼保健院主管检验师，医学硕士，从事耳聋基因等新生儿疾病及孕产妇疾病的筛查研究。
  • 基金资助:
    河北省医学科学研究重点课题(20170216)

Clinical application of hearing screening combined with deafness gene detection in 23 763 neonates#br#

  1. 1.Department of Eugenics and Genetics, the Hospital of Maternal and Children Health Care of Shijiazhuang
    City， Hebei Province，Shijiazhuang 050081， China； 2.Department of Gynaecology, the Hospital of Maternal 〖JP〗
    and Children Health Care of Shijiazhuang City， Hebei Province， Shijiazhuang 050081， China；
    3.Department of Functional， the Pingan Hospital of of Shijiazhuang City， Hebei Province，
    Shijiazhuang 050021， China； 4.Department of  Clinical Laboratory， the Hospital of
    Maternal and Children Health Care of Xinji City， Hebei Province，Xinji 052360，China；
    5.Department of Health, the Hospital of Maternal and Children Health Care of
    Shijiazhuang City， Hebei Province， Shijiazhuang 050081， China
  • Online:2017-09-25 Published:2017-09-18

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摘要： ［摘要］〓
〖HTH〗目的〖HTSS〗〖KG*2〗通过对石家庄市23 763例新生儿听力筛查及耳聋基因检测数据的分析，探讨听力筛查联合耳聋基因检测在临床中的应用价值。
〖HTH〗方法〖HTSS〗〖KG*2〗 新生儿于出生后3 d同步进行听力筛查及常见耳聋基因检测。其中听力筛查采用初筛耳声发射(otoacoustic emission，OAE)和复筛OAE+自动听性脑干反应两步法，常见耳聋基因检测采用荧光聚合酶链式反应法(荧光PCR)，最后对联合筛查结果进行统计分析。
〖HTH〗结果〖HTSS〗〖KG*2〗23 763例新生儿中有20 443例通过了听力初筛，初筛通过率为86.03%(20 443/23 763)；3 087例参加复筛的新生儿中有2 964例通过了复筛，复筛通过率为96.02%(2 964/3 087)。23 763例新生儿中有960例携带常见耳聋基因突变，随机人群常见耳聋基因突变率为4.04%(960/23 763)；123例未通过听力筛查的新生儿中有20例携带常见耳聋基因突变，高危人群携带率为16.26%(20/123)，高危人群组常见耳聋基因突变携带率高于随机人群组（P＜005)。最终在37例进行听力学诊断的新生儿中确诊中度耳聋1例，重度耳聋4例，确诊为听力损失的5例新生儿中有1例为235delC纯合突变型，1例为235delC/299300delAT复合杂合突变型，2例为IVS72A>G纯合突变型，1例为IVS72A>G/2168A>G复合杂合突变型。
〖HTH〗结论〖HTSS〗〖KG*2〗将联合筛查应用于临床可以扩大听力障碍的防治范围，有效提高新生儿耳聋的检出率，有助于提早发现新生儿听力障碍并实施早期个性化靶向预防，为患儿提供有针对性的医疗咨询与干预。

关键词: 听力检查, 基因检测, 婴儿, 新生

Abstract: ［Abstract］  Objective〖HTSS〗〓To explore the value of hearing screening combined deafness genes detection in clinical application by analyzing the data from 23 763 newborns in Shijiazhuang.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓Newborn babies undergo simultaneous hearing screening and common deafness gene testing at 3 d after birth. The twostep screening method was used in hearing screening. Otoacoustic emission(OAE) was used at the beginning of the screen and OAE+automated auditory brainstem response was used on those who failed the first screening. Common deafness genes were detected by fluorescent PCR. Finally we analyzed the statistical datas of combined screening.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓20 443 from the 23 763 newborns passed first hearing screening and the passing rate was 86.03%(20 443/23 763). 3 087 newborns recept the second hearing screening and 2 964 passed it. The second passing rate was 96.02%(2 964/3 087). 960 newborns carried mutations of common deafness genes and the carrier rate was 4.04%(960/23 763) from the random population of 23 763. The carrier rate was 16.26%(20/123) in those 123 infants unpassed the hearing screening who were called high risk population. Signification differences were observed between the two groups of random and high risk(P＜0.05). Finally 5 cases were diagnosed as hearing loss in the 37 newborns who were recalled for audiological diagnosis. We found a 235delC homozygous mutation and a 235delC/299300delAT compound heterozygous in GJB2 gene and 2 cases of IVS72A>G  homozygous mutation and a IVS72A>G/ 2168A>G  compound heterozygous in SLC26A4 gene among the 5 hearing loss. The 235delC/299300delAT compound heterozygous was diagnosed as moderate deafness and the others were profound hearing loss.
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓The synchronous detection for clinical application could expand the scope of deafness prevention and improve the detection rate of neonatal deafness effectively. It contributes to the early detection of neonatal hearing disorders and provides early individualized targeted prevention. It can provide targeted medical advice and intervention for children with hearing disorders.

Key words: hearing tests, genetic testing, infant, newborn

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