中华耳科学杂志2011，Vol.9Issue(3)：289-295,7.
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
摘要
Abstract
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 offered 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 results 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 for possible 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 A1555C carriers. They were advised that their offspring should strictly avoid exposure to aminoglycoside antibiotics to prevent 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.关键词
遗传性耳聋/基因诊断/遗传咨询/产前诊断/出生缺陷Key words
Hereditary hearing loss/Genetic testing/Genetic counseling/ Prenatal diagnosis/ Birth defect分类
医药卫生引用本文复制引用
韩明昱,楚严,卢彦平,汪龙霞,康东洋,张昕,戴朴..孕期女性常见耳聋基因筛查与耳聋出生缺陷干预[J].中华耳科学杂志,2011,9(3):289-295,7.基金项目
国家自然科学基金面上项目(30872862 （）
31071099 （）
81070792) （）
国家自然科学基金青年基金(81000415 （）
81000414 （）
30801285) （）
北京市科技新星计划资助项目(2009B34 （）
2010B081) （）
高等学校优秀博士论文作者专项基金(2007 B67) （2007 B67）
