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基因检测在儿童听力障碍评估中的应用。

The use of genetic testing in the evaluation of hearing impairment in a child.

作者信息

Robin Nathaniel H, Prucka Sandra K, Woolley Audie L, Smith Richard Jh

出版信息

Curr Opin Pediatr. 2005 Dec;17(6):709-12. doi: 10.1097/01.mop.0000181469.56484.5f.

Abstract

PURPOSE OF REVIEW

To review the role of genetic testing in the evaluation of hearing impairment in children.

RECENT FINDINGS

The introduction of genetic testing has greatly enhanced the evaluation of deafness and hearing impairment in children. It can save time and money as well as providing patients, their families, and their physicians with important information; however, this testing is different from the medical testing that pediatricians typically order.

SUMMARY

For patients and families to realize the benefits of genetic testing it must be done early in the evaluation process and must be accompanied by appropriate pretest and posttest counseling.

摘要

综述目的

综述基因检测在儿童听力障碍评估中的作用。

最新发现

基因检测的引入极大地增强了对儿童耳聋和听力障碍的评估。它可以节省时间和金钱,同时为患者、其家人及其医生提供重要信息;然而,这种检测不同于儿科医生通常所要求的医学检测。

总结

为了让患者和家庭实现基因检测的益处,必须在评估过程的早期进行检测,并且必须伴有适当的检测前和检测后咨询。

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