2014年第一版《染色体微阵列分析(CMA)技术在产前诊断中的应用专家共识》颁布后,经过8年的临床和技术发展,CMA技术已成为胎儿染色体拷贝数缺失或重复异常的一线诊断技术,并广泛应用于我国的产前诊断领域。然而,随着行业的发展和病例诊断经验的积累,CMA技术在产前诊断的许多重要方面的应用,比如临床诊断证词,测试前后的数据分析和遗传咨询,需要进一步规范和完善,从而使CMA技术的应用更加符合临床需要。指南的修订由国家产前诊断技术专家组牵头,并委托北京协和医院等多家产前诊断机构撰写,讨论和修改初稿,由国家产前诊断技术专家组的所有专家讨论和审查,经过广泛的审查和修改,最终形成。本指南针对CMA技术在产前诊断和临床诊断中应用的重要方面,从证据的临床应用来看,测试质量控制,数据分析和解释,诊断报告撰写,对遗传咨询前后的检测等工作规范进行了详细的阐述和介绍。它充分体现了综合经验,当前中国专家团队对CMA技术产前诊断应用的专业思考和指导。《CMA技术在产前诊断中的应用指南》的编制,将努力推动我国胎儿染色体疾病产前诊断的规范化和推进。
After the promulgation of the first edition of expert
consensus on the application of chromosomal microarray analysis (CMA) technology in prenatal diagnosis in 2014, after 8 years of clinical and technical development, CMA technology has become a first‑line diagnosis technology for fetal chromosome copy number deletion or duplication abnormalities, and is widely used in the field of prenatal diagnosis in China. However, with the development of the industry and the accumulation of experience in case diagnosis, the application of CMA technology in many important aspects of prenatal diagnosis, such as clinical diagnosis testimony, data analysis and genetic counseling before and after testing, needs to be further standardized and improved, so as to make the application of CMA technology more in line with clinical needs. The revision of the
guideline was led by the National Prenatal Diagnostic Technical Expert Group, and several prenatal diagnostic institutions such as Peking Union Medical College Hospital were commissioned to write, discuss and revise the first draft, which was discussed and reviewed by all the experts of the National Prenatal Diagnostic Technical Expert Group, and was finally formed after extensive review and revision. This
guideline is aimed at the important aspects of the application of CMA technology in prenatal diagnosis and clinical diagnosis, from the clinical application of evidence, test quality control, data analysis and interpretation, diagnosis report writing, genetic counseling before and after testing and other work specifications are elaborated and introduced in detail. It fully reflects the integrated experience, professional thinking and guidance of the current Chinese expert team on the prenatal diagnosis application of CMA technology. The compilation of the
guideline for the application of CMA technology in prenatal diagnosis will strive to promote the standardization and advancement of prenatal diagnosis of fetal chromosome diseases in China.