摘要
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.
作者
马京梅
杨慧霞
Ma Jingmei;Yang Huixia(Department of Obstetrics and Gynecology,Peking University First Hospital,Bejing 100034,China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2022年第1期25-27,共3页
Chinese Journal of Perinatal Medicine
基金
国家重点研发计划(2016YFC1000303)。
关键词
产前诊断
系谱
Prenatal diagnosis
Pedigree
