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尿素循环障碍中的遗传咨询问题。

Genetic counseling issues in urea cycle disorders.

作者信息

Sniderman King Lisa, Singh Rani H, Rhead William J, Smith Wendy, Lee Brendan, Summar Marshall L

机构信息

Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA.

出版信息

Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. doi: 10.1016/j.ccc.2005.08.001.

Abstract

The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, and decision-making in a nondirective way. A proper understanding of the genes involved, inheritance patterns, available testing, and complicating factors is critical to serving the families' needs. This article summarizes the needed information, in particular describing the complexities of prenatal testing and counseling issues for each UCD. Included case histories illustrate the genetic counseling process and the decision-making scenarios for two families.

摘要

为患有尿素循环障碍(UCD)的家庭提供咨询的目标是以非指导性方式促进科学理解、情感接受和决策过程。正确理解所涉及的基因、遗传模式、可用检测方法以及复杂因素对于满足家庭需求至关重要。本文总结了所需信息,特别描述了每种尿素循环障碍的产前检测复杂性和咨询问题。所包含的病例史说明了两个家庭的遗传咨询过程和决策情况。

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