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英国临床医生对单基因疾病产前诊断的了解与态度。

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders.

作者信息

Firth H V, Lindenbaum R H

机构信息

Department of Medical Genetics, Churchill Hospital, Headington, Oxford.

出版信息

J Med Genet. 1992 Jan;29(1):20-3. doi: 10.1136/jmg.29.1.20.

Abstract

Postal questionnaires were sent to 308 clinicians in the UK (general practitioners, obstetricians, clinical geneticists, neurologists, paediatricians, and paediatric neurologists) to assess their knowledge of, and attitudes to, the prenatal diagnosis of three common single gene disorders, Huntington's disease (HD), cystic fibrosis (CF), and Duchenne muscular dystrophy (DMD). Replies received numbered 213, a response rate of 69%. Overall, 95% of responding clinicians thought that offering prenatal diagnosis for the three test conditions was often or always appropriate. There was a correlation between the clinicians' estimates of life expectancy and their willingness to offer prenatal diagnosis (p less than 0.01). Among the non-geneticists questioned, fewer than 50% of general practitioners answered correctly regarding the availability of prenatal tests.

摘要

向英国的308名临床医生(全科医生、产科医生、临床遗传学家、神经科医生、儿科医生和儿科神经科医生)发送了邮政调查问卷,以评估他们对三种常见单基因疾病——亨廷顿舞蹈症(HD)、囊性纤维化(CF)和杜氏肌营养不良症(DMD)——的产前诊断的了解程度和态度。收到的回复有213份,回复率为69%。总体而言,95%的回复临床医生认为针对这三种检测情况提供产前诊断通常或总是合适的。临床医生对预期寿命的估计与他们提供产前诊断的意愿之间存在相关性(p小于0.01)。在接受询问的非遗传学家中,不到50%的全科医生对产前检测的可获得性回答正确。

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