Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families

Deng Yuyuan; Sang Shushan; Wen Jie; Liu Yalan; Ling Jie; Chen Hongsheng; Cai Xinzhang; Mei Lingyun; Chen Xiaoya; Li Meng; Li Wu; Li Taoxi; He Chufeng; Feng Yong

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Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families

机译：通过产前诊断和遗传咨询的生殖指导，用于高风险家庭的隐性遗传性听力损失

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摘要

Objective: To evaluate the accuracy and validity of our protocol for prenatal diagnosis and genetic counseling in high-risk families at a clinic.

机译：目的：评价诊所高风险家庭产前诊断和遗传咨询方案的准确性和有效性。

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来源
《International journal of pediatric otorhinolaryngology》 |2018年第2018期|共6页
作者
Deng Yuyuan; Sang Shushan; Wen Jie; Liu Yalan; Ling Jie; Chen Hongsheng; Cai Xinzhang; Mei Lingyun; Chen Xiaoya; Li Meng; Li Wu; Li Taoxi; He Chufeng; Feng Yong;
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作者单位

Cent S Univ Xiangya Hosp Key Lab Otolaryngol Major Dis Res Hunan Prov Dept Otolaryngol Ctr Med;

Cent S Univ Xiangya Hosp Key Lab Otolaryngol Major Dis Res Hunan Prov Dept Otolaryngol Ctr Med;

Cent S Univ Xiangya Hosp Dept Otolaryngol Changsha Hunan Peoples R China;

Cent S Univ Xiangya Hosp Dept Otolaryngol Key Lab Otolaryngol Major Dis Res Hunan Prov Changsha;

Cent S Univ Xiangya Hosp Inst Precis Med Changsha Hunan Peoples R China;

Cent S Univ Xiangya Hosp Dept Otolaryngol Key Lab Otolaryngol Major Dis Res Hunan Prov Changsha;

Cent S Univ Xiangya Hosp Dept Otolaryngol Changsha Hunan Peoples R China;

Cent S Univ Xiangya Hosp Dept Otolaryngol Key Lab Otolaryngol Major Dis Res Hunan Prov Changsha;

Cent S Univ Xiangya Hosp Key Lab Otolaryngol Major Dis Res Hunan Prov Dept Otolaryngol Ctr Med;

Cent S Univ Ctr Med Genet Changsha Hunan Peoples R China;

Cent S Univ Ctr Med Genet Changsha Hunan Peoples R China;

Cent S Univ Ctr Med Genet Changsha Hunan Peoples R China;

Cent S Univ Xiangya Hosp Dept Otolaryngol Changsha Hunan Peoples R China;

Cent S Univ Xiangya Hosp Key Lab Otolaryngol Major Dis Res Hunan Prov Dept Otolaryngol Ctr Med;

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原文格式 PDF
正文语种 eng
中图分类耳鼻咽喉科学;
关键词
Sensorineural hearing loss; Genes; Recessive; Prenatal diagnosis; Genetic counseling;

机译：感官听力损失;基因;隐性;产前诊断;遗传咨询;

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专利

1. Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families [J] . Deng Yuyuan, Sang Shushan, Wen Jie, International journal of pediatric otorhinolaryngology . 2018,第期

机译：通过产前诊断和遗传咨询的生殖指导，用于高风险家庭的隐性遗传性听力损失
2. Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families [J] . YinA., LiuC., ZhangY., International journal of pediatric otorhinolaryngology . 2014,第8期

机译：遗传咨询和产前诊断可用于高危家庭的遗传性听力丧失
3. Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling. [J] . Mahdieh N, Shirkavand A, Raeisi M, Biochemical and Biophysical Research Communications . 2010,第2期

机译：在患有非综合征性听力损失的伊朗家庭中，由于GJB2的隐性和从头显性突变导致的意外异质性：对遗传咨询的意义。
4. Issues in prenatal counseling and diagnosis in Turner Syndrome [C] . Melissa L. Loscalzo, Carolyn A. Bondy, Barbara Biesecke National Institute of Child Health and Human Development, National Institute of Health . 2006

机译：特纳综合征产前咨询与诊断的问题
5. Genetic Counseling Following a Positive X-AFP Result: Identification of Additional Genetic Risk Factors Before Prenatal Diagnosis [D] . Hoang, Van T.T. 2010

机译：X-AFP阳性结果后的遗传咨询：产前诊断前确定其他遗传危险因素
6. Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss [O] . S Stern, K Arnos, L Murrelle, 2002

机译：聋人和重听者对基因测试和产前诊断听力损失的态度
7. Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss [O] . Stern, S, Arnos, K, Murrelle, L, 2002

机译：聋人和重听者对基因测试和产前诊断听力损失的态度
8. Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report [R] . Duster, T. 1998

机译：基因检测和筛选的途径和障碍：分子遗传学符合高风险家庭。最终报告

Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families

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