Abstract: High-throughput sequencing techniques such as CNV seq，gene panel，WES and others have been used in prenatal diagnosis.Each of them has its own advantages and disadvantages.There are many guidelines about CNV interpretation and WES application.Based on practical experience，we discuss how to apply several techniques reasonably in prenatal diagnosis.It is expected that WGS can also be used in prenatal diagnosis in the future.

Key words: high-throughput sequencing, CNV-seq, gene panel test, WES, WGS

摘要： 拷贝数变异测序（CNV-seq）、基因包检测、全外显子组测序（WES）等高通量测序技术已用于产前诊断，几种技术各有优势和不足。国内外相继制定了拷贝数变异（CNV）解读指南、WES应用等指南。结合实践经验，文章讨论了如何在产前诊断中合理应用几种技术，期待将来全基因组测序（WGS）也可用于产前诊断。

关键词: 高通量测序, 拷贝数变异测序, 基因包检测, 全外显子组测序, 全基因组测序