以科学态度推动遗传检测新技术在胎儿疾病筛查中的应用  

Promoting the application of new genetic testing technologies in the screening of fetal diseases with a scientific attitude

作　　者：戚庆炜 QI Qingwei(Department of Obstetrics,Peking Union Medical College Hospital,Peking Union Medical College&Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院产科中心,北京100730

出　　处：《临床儿科杂志》2024年第5期384-389,共6页Journal of Clinical Pediatrics

摘　　要：随着二代测序技术的发展,胎儿遗传性疾病的产前筛查范围已从常见染色体非整倍体扩展到染色体微缺失/微重复综合征和单基因病,筛查策略也从仅针对染色体异常逐渐进展至对胎儿染色体非整倍体、拷贝数变异和单基因变异进行同步筛查的策略。目前,游离DNA检测已经成为产前筛查的主流检测技术,但在检测疾病范围、目标疾病的检测性能方面还有较大的提升空间。在临床实践中,正确评估新遗传性检测技术的准确性和筛查效率,完善临床路径,提高从业人员的咨询能力,全面评估新技术临床应用的可行性和服务可及性,进一步完善产前筛查产前诊断的技术和管理体系,是目前亟需解决的实际问题。With the development of second-generation sequencing technology,the target diseases of prenatal screening for fetal genetic diseases have gradually progressed from common chromosomal aneuploidy to chromosome microdeletion/microduplication syndromes and single-gene disorders,and the screening strategy has also gradually progressed from chromosomal abnormalities to comprehensive screening strategies for fetal chromosomal aneuploidy,copy number variations and monogenic variations.In the current clinical practice,cell-free DNA testing has become the mainstream technology for prenatal screening,but there is still an urgent need to improve the scope of the target diseases and the detection performance.It is urgent to correctly evaluate the accuracy and screening efficiency of the new genetic testing technology and define its clinical pathway.It is also important to improve the ability of the pre-testing and post-testing counselling of the practitioners,and to evaluate the feasibility of clinical application of new technologies and the accessibility of comprehensive services,and further improving the management system of prenatal screening and prenatal diagnosis are practical issues that need to be addressed urgently.

关 键 词：产前筛查 游离DNA检测 染色体非整倍体 拷贝数变异 单基因变异 

分 类 号：R714.5[医药卫生—妇产科学]