Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.
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DOI：
10.1097/00125817-200205000-00011
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发表时间：
2002-05
期刊：
影响因子：
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通讯作者：
ACMG
中科院分区：
文献类型：
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作者：
ACMG
在许多州，新生儿听力筛查的出现导致在听力损失婴儿的随访中使用基因检测和相关遗传服务的增加。先天性听力损失的患者中有很大一部分具有听力损失的遗传病因。为了确保先天性听力损失的患者能够获得适合其情况的遗传服务，卫生资源和服务管理局的妇幼保健局资助美国医学遗传学学院召集专家小组，制定先天性听力损失遗传评估指南。在简要概述了听力损失、新生儿筛查和新生儿听力筛查的现有知识后，我们提供了遗传服务的概述和指南，描述了如何最好地确保患者接受适当的遗传服务。遗传因素对这些条件的重大贡献，加上这些条件的遗传学知识的迅速发展，加上遗传服务固有的多学科性质，提供了一个例子，说明显然需要采用综合性多学科方法进行护理。
The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congential hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.