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儿科囊性纤维化诊所中患者父母对囊性纤维化产前诊断和携带者筛查的态度。

Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic.

作者信息

Watson E K, Marchant J, Bush A, Williamson B

机构信息

Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London.

出版信息

J Med Genet. 1992 Jul;29(7):490-1.

PMID:1640429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016026/
Abstract

The parents of all children attending the Royal Brompton National Heart and Lung Hospital cystic fibrosis paediatric clinic were asked to complete an anonymous postal questionnaire addressing attitudes towards prenatal diagnosis and population carrier screening for cystic fibrosis (CF); 65% (170/261) of parents responded. Of the respondents, 92% would support the introduction of a population screening test to detect carriers of CF and 19% felt such a test should be mandatory. A total of 64% of CF parents felt they would choose not to have any further children in the knowledge that they were both carriers, 74% would choose to have a prenatal test if they became pregnant, 44% would consider terminating an affected pregnancy, 33% would not, and 23% were unsure. Overall, 72% of respondents indicated they would choose to avoid having a further child with CF either by not having further children or by terminating an affected pregnancy.

摘要

皇家布朗普顿国立心肺医院囊性纤维化儿科诊所邀请所有患儿的家长填写一份匿名邮寄问卷,以了解他们对囊性纤维化(CF)产前诊断和群体携带者筛查的态度;65%(170/261)的家长做出了回应。在受访者中,92%的人支持开展群体筛查检测以发现CF携带者,19%的人认为这种检测应该是强制性的。共有64%的CF患儿家长表示,如果知道夫妻双方都是携带者,他们会选择不再生育;74%的人表示如果怀孕会选择进行产前检测;44%的人会考虑终止受影响的妊娠,33%的人不会,23%的人不确定。总体而言,72%的受访者表示,他们会选择通过不再生育或终止受影响的妊娠来避免再生育一个患有CF的孩子。

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Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic.儿科囊性纤维化诊所中患者父母对囊性纤维化产前诊断和携带者筛查的态度。
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本文引用的文献

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Simple non-invasive method to obtain DNA for gene analysis.获取用于基因分析的DNA的简单非侵入性方法。
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Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定:遗传分析
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Attitudes to carrier screening for cystic fibrosis: a survey of health care professionals, relatives of sufferers and other members of the public.对囊性纤维化携带者筛查的态度:一项针对医疗保健专业人员、患者亲属及其他公众的调查。
Br J Gen Pract. 1991 Jun;41(347):237-40.
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