孕期女性常见耳聋基因筛查与耳聋出生缺陷干预

Screening of common deaf genes in pregnant women and management of deafness at birth

目的调查孕期女性对常见耳聋基因筛查的接受程度以及孕期女性常见耳聋基因突变的携带率。方法对孕期女性进行常见耳聋基因筛查内容的宣传,每位受检者在签署知情同意书后,抽取外周血并提取DNA,然后进行GJB2全基因测序,SLC26A4常见突变区域(外显子7+8,19)及线粒体基因12SrRNA测定。根据检测结果提供遗传咨询与生育指导,并于孕妇生育后进行随访。结果 3205例孕期女性中,3000例同意进行常见耳聋基因筛查,接受率达93.60%;共筛查出携带常见耳聋基因突变者146例(4.86%),其中91例携带GJB2突变(3.03%),49例携带SLC26A4突变(1.63%);建议此140例GJB2/SLC26A4突变携带者的丈夫来进行相应基因检测,83例携带者的丈夫同意检测;6对夫妇被证实为同为GJB2或SLC26A4突变携带者,预测后代出现耳聋的风险为25%;4对夫妇同意进行耳聋产前诊断,确认1对夫妇的后代为遗传性耳聋患者。6例(0.20%)孕期女性携带线粒体基因A1555G突变,预测后代亦为此突变携带者,需要终生严格禁止使用氨基糖甙类抗生素。随访到的1936例孕期女性所生育后代的听力均未发现异常。结论常见耳聋基因筛查在孕期女性中接受程度高,如果列入常规产前筛查项目之中,可初步实现遗传性耳聋的一级预防,有效减少聋儿的出生。

Objective To investigate acceptance of common causative deaf genes screening and carrier rates of such genes among pregnant women in China. Methods Three thousand two hundred and five pregnant women were offeted a free screening of common causative deaf genes at their perinatal visits. Of these women, 3000 consented to give blood samples. Genomic and mitochondrial DNA were extracted from whole blood specimens and tested for GJB2, SLC26A4 （Exon7＋8 and Exonl9） and mtDNA 12S rRNA mutations. The women were counseled on the test resuhs on their next visits and followed up after they had given birth to babies. Results The acceptance rate of deaf genes carrier testing was 93.60% （3000/3205） in this group of women. Of the 3000 participating women, 91 （3.03%） were found to be GJB2 carriers and 49 （1.63%） were SLC26A4 carriers. These 140 carriers were advised to have their husbands tested forpossible carrier status. Of the 140 husbands, 83 accepted testing and 6 were found to carry the same deaf genes （either GJB2 or SLC26A4） as their wives. They were informed that their offspring would have a 25% risk to be deaf. Four couples accepted prenatal diagnostic testing and 1 fetus was confirmed to be deaf. Six of the tested women （0.20%） were mtDNA A1555G carriers. They were advised that their offspring should strictly avoid exposure to aminoglycoside antibiotics to pre- vent ototoxic hearing damage. Conclusion In the prenatal counseling setting, screening of deaf genes is highly accepted by Chinese pregnant women and is a desirable primary prevention measure that should be made available to this population.