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为有杜氏肌营养不良风险的未育女性提供遗传咨询。

Genetic counseling for childless women at risk for Duchenne muscular dystrophy.

作者信息

Eggers S, Pavanello R C, Passos-Bueno M R, Zatz M

机构信息

Departamento de Biologia, Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil.

出版信息

Am J Med Genet. 1999 Oct 29;86(5):447-53. doi: 10.1002/(sici)1096-8628(19991029)86:5<447::aid-ajmg10>3.0.co;2-p.

Abstract

The aim of the present study was to assess the impact of genetic counseling in young women at risk to have Duchenne muscular dystrophy (DMD) children prior to childbearing. A total of 263 potential DMD carriers, who had had genetic counseling and were given different genetic risks, were included in this investigation. Their reproductive outcome and future plans as well as their requests for DNA tests (for carrier detection and prenatal diagnosis) were analyzed according to genetic risk magnitude, comprehension of genetic counseling is- sues, family and personal history, socio-educational level, and subjective opinion about selective abortion. We noted that genetic risk magnitude had no significant influence on reproductive plans or outcome nor on the request for additional DNA testing, even considering only those clients with good comprehension and retention of issues discussed during genetic counseling. On the other hand, counselees who had more than one affected or at least one deceased DMD case in their family understood genetic counseling significantly better, suggesting that "learning with life" has a stronger impact than genetic counseling.

摘要

本研究的目的是评估遗传咨询对有生育杜氏肌营养不良症(DMD)患儿风险的年轻女性在生育前的影响。共有263名潜在的DMD携带者参与了本调查,她们接受了遗传咨询并被告知不同的遗传风险。根据遗传风险程度、对遗传咨询问题的理解、家庭和个人病史、社会教育水平以及对选择性流产的主观意见,分析了她们的生殖结局和未来计划以及她们对DNA检测(用于携带者检测和产前诊断)的请求。我们注意到,即使仅考虑那些对遗传咨询中讨论的问题理解良好且记忆深刻的客户,遗传风险程度对生殖计划或结局以及对额外DNA检测的请求也没有显著影响。另一方面,那些家庭中有不止一名受影响或至少一名已故DMD病例的咨询对象对遗传咨询的理解明显更好,这表明“在生活中学习”比遗传咨询的影响更大。

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