遗传性耳聋的产前诊断与遗传咨询

Genetic counseling and prenatal diagnosis for hereditary hearing loss

目的耳聋是临床上常见的出生缺陷之一,大多数耳聋患儿家长对于耳聋的遗传检测及产前诊断持积极态度。方法对117例非综合征型感音神经性耳聋患儿家庭进行耳聋基因检测,辅以恰当的遗传咨询,并为有再生育需求的家庭提供产前基因诊断。结果通过基因检测为57例患儿找到明确致聋基因突变,并将致聋位点及遗传模式在每个患儿家庭中进行分析验证。接受详细的遗传咨询后,53对携带常染色体隐性遗传致聋突变的夫妇选择产前基因诊断。出生后听力评估结果与产前诊断结果相符。结论本临床研究中,94.6%携带常染色体隐性遗传致聋基因突变的夫妇选择接受产前基因诊断,提示绝大多数耳聋患儿的家长对于耳聋的遗传检测及产前诊断持积极态度,认为产前基因检测有助于家长从心理、经济、医疗等角度提前做好准备。

Objective Genetic counseling and prenatal diagnosis are very necessary to detect hereditary hearing loss,especially in high-risk families.Prenatal diagnosis gives parents the chance to prepare psychologically,financially and medically for the probable health and educational needs of the affected neonates.Method 117 unrelated families with children affected with non-syndromic sensorineural hearing loss were enrolled in the study and received genetic analysis with microarray and DNA sequencing technologies.Genetic counseling was provided to each participating families,and prenatal diagnosis was given to those at risk and would like to know their fetuses＇ genotypes and probable hearing statuses.Results 57 cases in the present study were diagnosed with confirmed pathogenic mutations and clear inheritance patterns.After receiving genetic counseling,53 carrier couples with pathogenic mutations chose to proceed prenatal diagnosis,the results of which were in accordance with the pregnancy outcomes.Infants prenatally detected to be monoallelic mutation carriers and those harbored neither deafness-causing mutations form their parents passed newborn hearing screening and six month follow-ups,while neonates prenatally detected to be carriers of diallelic or compound heterozygous mutations developed hearing loss after birth.Conclusions With appropriate genetic counseling and support services provided,the genetic testing and the prenatal diagnosis of hearing loss were valued by carrier couples for the information provided for future family planning and probably the preparation for the health and educational needs of the affected neonates.