摘要
目的通过分析新生儿听力和微阵列法耳聋基因联合筛查结果,探讨联合筛查的临床指导意义。方法对2018年10月-2019年09月在福建省妇幼保健院分娩的11684例新生儿进行常规听力筛查使用(TEOAE+AABR)和常见4个耳聋基因15个位点GJB2(c.35delG、c.176_191del16、c.235delC、c.299_300delAT),GJB3 c.538 C>T,SLC26A4(c.2168 A>G、IVS7-2 A>G、c.1174A>T、c.1226G>A、c.1229C>T、c.1975G>C、c.2027T>A、IVS15+5G>A),线粒体12SrRNA(m.1494C>T,m.1555A>G)联合筛查,听力筛查未通过的耳聋基因携带者在3月龄时进行听力学诊断,并对其进行随访。结果11684例中通过新生儿听力初筛筛查10933例(93.57%,10933/11684)。11684例新生儿中共检出耳聋基因突变416例,基因突变携带率为3.56%(416/11684),男女比例214/202,GJB2突变携带率占比1.76%(206/11684),GJB3突变携带率占比0.30%(30/11684),SLC26A4突变携带率占比1.28%(149/11684),线粒体12SrRNA占比0.27%(31/11684);复合杂合突变与联合基因突变共5例。耳聋基因筛查和听力初筛均未通过者31例,其中复筛未通过8例。3月龄诊断,发现其中1例双耳重度、极重度感音神经聋伴GJB2(c.235delC、c.299_300delAT)复合杂合突变,给予佩戴助听器,1岁随访,言语发育正常。5例为轻到中度听力下降,其中5例为单耳或双耳分泌性中耳炎,治疗后恢复正常。结论新生儿听力和耳聋基因联合筛查是早期发现、早期诊断听力损失儿童的有效筛查方式,有助于儿童言语正常发育和迟发性耳聋的预防。针对性的提供耳聋遗传建议,有助于耳聋基因缺陷家庭,有效预防下一代聋儿的出生。
Objective To report results of concurrent newborn hearing and genetic screening and their potential values in clinical management of deafness.Methods After obtaining informed consents,11684 newborns born at the Fujian Maternal and Child Health Hospital from October 2018 to September 2019 received regular hearing screening by transiently evoked otoacoustic emissions(TEOAEs)and automated auditory brainstem responses(AABRs).At the same time,dried heel blood spots were collected for genetic testing for 15 hot spot mutations in the GJB2(c.35delG,c.176_191del16,c.235delC and c.299_300delAT),GJB3(c.538 C>T),SLC26A4(c.2168 A>G,IVS7-2 A>G,c.1174A>T,c.1226G>A,c.1229C>T,c.1975G>C,c.2027T>A and IVS15+5G>A)and mtDNA 12SrRNA(m.1494C>T,m.1555A>G)genes using a DNA microarray platform.Those failing the combined screening were followed up at 3 months for diagnosis.Data from combined screening were analyzed.Results Of the 11684 newborns,10933(93.57%)passed initial hear-ing screening.A total of 416 newborns(3.56%)were found to carry gene mutations with a male to female ratio of 214/202.The rate of mutation carriers was 1.76%(206/11684)for GJB2,0.30%(30/11684)for GJB3,1.28%(149/11684)for SLC26A4 and 0.27%(31/11684)for mitochondrial 12SrRNA.Five infants carried compound heterozygous mutations or heterozygous gene mutations of multiple genes.Of the 31 infants who failed the initial hearing and genetic screening,8 also failed the second screening.Compound heterozygous mutation of the GJB2 gene(c.235delC and c.299_300delAT)with bilateral asymmetrical profound and severe hearing loss was diagnosed in one case at the age of 3 months.With hearing aids,speech development was normal in the case at 1 year followed up.Five infants were found to have mild to moderate hearing loss,and 5 having unilateral or bilateral secretory otitis media,which recovered after treatment.Conclusion Combined hearing and deafness genes screening is an effective method for early detection and diagnosis of hearing loss in children,which may help intervention for normal development of speech and prevention of delayed deafness.Targeted genetic counseling can help families with deafness gene defects and effectively prevent next generation of deafness at birth.
作者
张秋韵
刘云亮
毛竹
张沁铭
ZHANG Qiuyun;LIU Yunliang;MAO Zhu;ZHANG Qinming(Department of Otolaryngology,Fujian Children’s Hospital,No.18 Daoshan Road,Fuzhou 350001,Fujian Province,China;Department of Otolaryngology,Fujian Maternity and Child Health Hospital,No.18 Daoshan Road,Fuzhou 350001,Fujian Province,China)
出处
《中华耳科学杂志》
CSCD
北大核心
2021年第3期457-461,共5页
Chinese Journal of Otology
关键词
新生儿听力筛查
基因
筛查
耳聋
Neonatal Screening
Deafness
Genes
Mutation Screening
作者简介
张秋韵,硕士,住院医师,研究方向:耳鼻咽喉科学;通讯作者:张秋韵,Email:514401614@qq.com。
