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中文摘要：
目的 通过回顾遗传性耳聋家庭产前诊断的临床实践,总结耳聋产前诊断的相关流程策略与经验.方法 2005年7月至2011年4月,213个耳聋家庭参加研究.其中,205个家庭已生育1个耳聋患儿,除1个家庭妻子为听力正常个体而丈夫为耳聋患者外,其余204个家庭的父母均听力正常；8个家庭为首次生育,包括2个耳聋夫妇家庭.除了1个家庭是经家系研究确定为POU3F4c.647G ＞A杂合突变导致X伴性耳聋外,其余212个家庭均行常见耳聋基因检测,包括GJB2、SLC26A4分析和线粒体基因（mtDNA） 12S rRNA检测,明确分子病因和后代再发风险.接受产前诊断时,母亲妊娠11 ～30周,根据妊娠时间,行适当的产前诊断取材并提取胎儿DNA,测定胎儿基因型,预测胎儿听力状态.结果 后代再发风险为25％的家庭共209个,其中,再生育家庭204个,先证者均为GJB2或SLC26A4纯合或复合突变,父母均为相同基因GJB2或SLC26A4突变携带者；5个首次生育家庭中的夫妇同为GJB2或SLC26A4突变携带者.后代再发风险为50％的家庭共3个,1个家庭先证者及父亲均为SLC26A4复合突变,母亲为SLC26A4突变携带者；1个家庭妻子为POU3F4突变携带者；1个家庭为耳聋夫妇,丈夫为SLC26A4复合突变,妻子同时携带mtDNA A1555G突变和SLC26A4杂合突变.后代再发风险为100％的家庭1个,夫妇均为GJB2纯合或复合突变,但妻子从精子库选择健康人精子,人工受精后怀孕.产前诊断结果显示：213个家庭共行产前诊断226例次（11个家庭进行了2次产前诊断,1例家庭行3次产前诊断）,180例次检测结果显示胎儿仅携带一个父系或母系突变,或未携带任何已知突变,该180个胎儿均已出生,随访听力均正常；46例次检测结果显示胎儿与先证者基因型相同,或同时携带了父母的突变,父母自愿选择终止妊娠.结论 耳聋基因诊断结合产前诊断可以有效预防耳聋家庭生育或再生育聋儿,严谨规范的流程与策
英文摘要：
Objective To summarize the workflow,strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice.Methods There were 213 famihes who received prenatal test from 2005 to 2011.Among the 213 families,205 families had had one deaf child,including 204 couples with normal hearing and one couple of the deaf husband and normal wife,8 families including 6 couples with normal hearing and 2 deaf couples,had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood.The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2,SLC26A4 and mtDNA 12sRNA,but one family carried POU3F4 c.647G 〉 A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study.The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks,and the following genetic information and counseling were supplied based on the results.Results The recurrent risk was 25%in 209 families,including 204 families with one deaf child and 5 families without child,among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50% in 3 families,the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation,the wife had POU3F4 c.647G 〉 A heterozygous mutation in another one family,and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100% in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations,and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank.226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice,and one family received three times. 46 times o
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