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

Abstract:

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.

Key words: prenatal screening, cell-free DNA testing, chromosomal aneuploidy, copy number variation and monogenic variation