美国在指导和管理染色体微阵列技术临床应用方面的经验和教训  

Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States

作　　者：谢小雷[1,2] 虞京威 祁仲夏 包黎明 沈亦平 陈天健[6] 李培宁 Xie Xiaolei;Yu Jingwei;Qi Zhongxia;Bao Liming;Shen Yiping;Chen Tianjian;Li Peining(Prenatal Diagnosis Center,Qingyuan People’s Hospital,the Sixth Affiliated Hospital of Guangzhou Medical University,Qingyuan,Guangdong 511500,China;Department of Genetics,Yale University School of Medicine,New Haven,CT 06511,USA;Department of Experimental Medicine,University of California,San Francisco CA94107;Department of Pathology,University of Colorado School of Medicine,Aurora,CO 80045,USA;Boston Children’s Hospital,Harvard University School of Medicine,Boston,MA 02115,USA;Haywood Genetic Center,Durham University School of Medicine,New Orleans,LA 70112,USA)

机构地区：[1]广州医科大学附属第六医院-清远市人民医院产前诊断中心,511500 [2]耶鲁大学医学院遗传系,美国纽黑文CT 06511 [3]加州大学旧金山分校实验医学系,美国旧金山CA94107 [4]科罗拉多大学医学院病理系,美国奥罗拉CO 80045 [5]哈佛大学医学院波士顿儿童医院,美国波士顿MA 02115 [6]杜兰大学医学院海伍得遗传中心,美国新奥尔良LA70112

出　　处：《中华医学遗传学杂志》2021年第5期419-424,共6页Chinese Journal of Medical Genetics

摘　　要：染色体微阵列分析(chromosome microarray analysis,CMA)是检测染色体异常和拷贝数变异(copy number variation,CNV)的首选方法。本文介绍了CMA转化为临床应用的技术验证过程、技术标准和指南的建立和更新、以及现行规范下的诊断效果,重点阐述通过对病例系列研究中系统证据回顾的总结,提出CMA临床应用的专家共识和实践资源,并建立和更新一系列相应的技术标准和指南。专家共识和临床实践均支持CMA作为发育及智力障碍、多发性先天缺陷和自闭症检测染色体异常和CNV的首选方法并提供了后续检测的建议,相应的技术标准和指南规范完善了产前及产后组成型CNV的检测并扩展到各类肿瘤获得型CNV的检测。CMA检测显著提高了基因组异常的检出率,但仍需克服自身技术的局限并应对其他新型技术的挑战。美国通过对专家共识、实践资源、标准和指南等文献的指导和管理,使CMA检测为患者及亲属提供了合理有效和安全的诊断服务,为相关遗传病的临床诊断和基础研究提供了可靠的依据,同时为新技术的临床转化提供了参考和借鉴。Chromosome microarray analysis(CMA)has become the first-tier testing for chromosomal abnormalities and copy number variations(CNV).This review described the clinical validation of CMA,the development and updating of technical standards and guidelines and their diagnostic impacts.The main focuses were on the development and updating of expert consensus,practice resources,and a series of technical standards and guidelines through systematic review of case series with CMA application in the literature.Expert consensus and practice resource supported the use of CMA as the first-tier testing for detecting chromosomal abnormalities and CNV in developmental and intellectual disabilities,multiple congenital anomalies and autism.The standards and guidelines have been applied to pre-and postnatal testing for constitutional CNV and tumor testing for acquired CNV.CMA has significantly improved the diagnostic yields but still needs to overcome its technical limitations and face challenges of new technologies.Guiding and governing CMA through expert consensus,practice resource,standards and guidelines in the United States has provided effective and safe diagnostic services to patients and their families,reliable diagnosis on related genetic diseases for clinical database and basic research,and references for clinical translation of new technologies.

关 键 词：染色体微阵列技术 专家共识 实践资源 技术标准和指南 

分 类 号：R440[医药卫生—诊断学]