家系分析在产前筛查诊断中的价值

Pedigree analysis for prenatal screening and diagnosis

家系分析有助于临床医生了解疾病的传递方式、分析检测结果,进而为家系其他成员提供检测建议。目前遗传学检测技术不断进步并应用于临床,可能发现大量“阳性”结果,更需要重视家系分析在致病性判断中的价值。

The information arising from pedigree analysis is important for clinicians to understand the inheritance pattern of the disease,filter the testing data,and provide suggestions to other family members.Along with the development and clinical implementation of new genetic testing,an increasing number of"positive"results are obtained and pedigree analysis is required to further verify the pathogenicity.