期刊
CLINICAL GENETICS
卷 103, 期 3, 页码 335-340出版社
WILEY
DOI: 10.1111/cge.14252
关键词
genetic susceptibility; genetic testing; genetic counseling; health recommendations; neurodevelopmental disorders
Increasing identification of neuro-susceptibility copy number variations (CNVs) has led to difficulties in predicting phenotypic features. The survey shows that multidisciplinary consultation is the key point in managing PIEV CNVs before conducting family surveys, which should be the basis for French recommendations.
Increasing interest regarding neurodevelopmental disorders and democratization of chromosomal microarray analysis have led to growing identification of neuro-susceptibility copy number variations (CNVs). These CNVs have incomplete penetrance and variable expressivity (PIEV), which makes phenotypic features hard to predict. The French Consortium AchroPuce has provided a list of 17 CNVs that should be considered as PIEV CNVs. This list led to consensual French practices of healthcare professionals in postnatal diagnosis. However, no consensus was established in prenatal diagnosis and fetal pathology. 121 French health professionals were surveyed their opinions and practices regarding reporting of PIEV CNVs to patients, in order to identify key points so as to establish French recommendations. The survey showed that professionals in favor of reporting PIEV CNVs to patients in prenatal diagnosis and fetal pathology (respectively, 76% and 84% of respondents) considered highlighted that multidisciplinary consultation is the main point-of-care management before family survey. This statement is close to recommendations published worldwide. As a consequence, multidisciplinary expertise should be the basis of French recommendations concerning the reporting of PIEV CNVs and genetic counseling in prenatal diagnosis and fetal pathology.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据