高深度全基因组测序应用于胎儿结构异常的测试开发和初步实施的专家共识  

Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities

作　　者：中华医学会医学遗传学分会细胞与基因组学组 全基因组测序应用于产前诊断的专家讨论组 王燕菲 朱晓帆[2] 孙路明 唐小华 刘宁[2] 孔祥东[2] Cyto and Genomics Group,Medical Genetics Branch,Chinese Medical Association;Writing Group for Expert Consensus on Whole-genome Sequencing in Prenatal Diagnosis;Wang Yanfei;Zhu Xiaofan;Sun Luming;Tang Xiaohua;Liu Ning;Kong Xiangdong(不详;Center of Prenatal Diagnosis,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China;Department of Fetal Medicine,Shanghai First Maternity and Infant Hospital,Shanghai 200040,China;Department of Genetic and Genomic Medicine,the People′s Hospital of Zhejiang Province,Hangzhou,Zhejiang 314408,China)

机构地区：[1]不详 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450052 [3]同济大学附属第一妇婴保健院胎儿医学科,上海200040 [4]浙江省人民医院遗传和基因组医学科,杭州314408

出　　处：《中华医学遗传学杂志》2024年第6期677-684,共8页Chinese Journal of Medical Genetics

基　　金：河南省重点研发与推广科技攻关专项(222102520018);河南省高等学校重点科研项目(22B320011)。

摘　　要：包括染色体数目异常、基因组拷贝数变异、单核苷酸变异、小片段插入缺失在内的遗传变异是胎儿发育异常和出生缺陷的主要病因。基于二代测序的全基因组测序(WGS)是新兴的遗传病检测技术,可对上述类型的变异同时进行检测。近年来,高深度(>30×)的WGS也在临床上逐渐开展,并被证明是明确胎儿发育异常遗传学病因的重要手段。为进一步推动将WGS用于胎儿异常的产前诊断,本学组组织专家参考国内外相关指南、共识和研究成果,就WGS的分析流程、报告建议及咨询内容等形成了以下共识。Fetal structural anomalies and birth defects are primarily caused by genetic variants such as chromosomal number abnormalities,copy number variations(CNV),single nucleotide variants(SNV),and small insertions and deletions(indel).Whole-genome sequencing(WGS)based on next-generation sequencing(NGS)as an emerging technology for genetic disease diagnosis can detect the aforementioned types of variants.In recent years,high-depth WGS(>30×)for prenatal diagnosis has also become available,and proved to be practical for unraveling the genetic etiology of fetal developmental abnormalities.To fascilitate clinical practice,test development and preliminary implementation of WGS for diagnosing fetal structural anomalies,we have formulated a consensus over the application of WGS in prenatal diagnosis by compiling previously published consensuses,guidelines,and research findings to provide a guidance on data analysis,reporting recommendations,and consultation of prenatal WGS results.

关 键 词：全基因组测序 产前诊断 专家共识 

分 类 号：R714.5[医药卫生—妇产科学]