产前外显子组测序遗传咨询及报告规范(讨论稿)  

A consensus recommendation for the interpretation and reporting of exome sequencing in prenatal genetic diagnosis

作　　者：无 张彦[4] 刘维强 章钧[6] 林少宾[7] 黄辉 张巍 任志林 王游声[4] 杨亚平 尹爱华[4] 无;Zhang Yan;Liu Weiqiang;Zhang Jun;Lin Shaobin;Huang Hui;Zhang Wei;Ren Zhilin;Wang Yousheng;Yang Yaping;Yin Aihua(Genetic Disease Society,Guangdong Precision Medicine Application Association;Prenatal Diagnosis Group,Maternal and Child Health Care Society,Guangdong Medical Association;Expert Committee of Prenatal Diagnosis;不详)

机构地区：[1]广东省精准医学应用学会遗传病分会 [2]广东省医学会产前诊断学分会 [3]广东省妇幼保健协会产前诊断技术专家委员会 [4]广东省妇幼保健院 [5]广州医科大学附属第三医院 [6]中山大学附属第三医院 [7]中山大学附属第一医院 [8]深圳华大基因股份有限公司 [9]嘉检医学 [10]北京贝瑞和康生物技术有限公司 [11]美国贝勒医学院

出　　处：《中华医学遗传学杂志》2020年第11期1205-1212,共8页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002600)。

摘　　要：随着高通量测序技术临床应用的快速发展,外显子组测序已从儿科逐渐扩展至产前诊断领域。针对检测前、后咨询、变异解读和报告等方面的临床标准对于产前外显子组测序的合理应用意义重大。规范的检测前、后咨询、样本处理和生物信息学分析过程的质量控制,以及适当的报告范围等都是产前外显子组测序临床应用所面临的关键问题。鉴于此,一个由胎儿医学以及多个相关专业的技术人员组成的委员会提出了将外显子组测序用于产前诊断的规范化建议,就产前外显子组测序的遗传咨询和报告标准提出了明确的意见,以期在产前环境中合理应用外显子组测序技术。With the rapid development and adaptation of high-throughput sequencing in clinical settings,application of exome sequencing(ES)has been gradually expanded from pediatric to prenatal diagnosis in recent years.There is an urgent need to establish criteria for clinical grade ES in order to facilitate such a complex testing.The standardization of pre-and post-test consultation,quality control for sample processing process and validation of bioinformatics data analysis,and more importantly data interpretation and reporting,as well as appropriate reporting scope,is of great importance for health care stakeholders.To achieve this,a committee composed of a wide range of healthcare professionals has proposed an ES standard for prenatal diagnosis.This has provided expert opinion on the genetic counseling and reporting standards of prenatal ES for the purpose of applying ES technology in prenatal setting.

关 键 词：产前诊断 外显子组测序 遗传咨询 规范 

分 类 号：R71[医药卫生—妇产科学]