关键词: 产前诊断, 基因组, 基因扩增, 杂交, 遗传, 序列分析, DNA, 数字相对突变剂量计数法

Abstract: As an important way to reduce birth defects and to ensure reproductive safety, prenatal diagnosis has become an important part of obstetric care. Recent advancement in genetic techniques has improved the prenatal diagnosis, especially non-invasive prenatal diagnosis（NIPD）. In this commentary, three most representative genetic techniques and their application in prenatal diagnosis were introduced，including the array CGH using in detecting chromosomal structural variation, the deep sequencing and the digital relative mutation dosage using in NIPD. Those techniques innovated rapidly, as well as their clinical application, manifested their importance in prenatal diagnosis and clinical study.

Key words: Prenatal diagnosis, Genome, Gene amplification, Hybridization, genetic, sequence analysis, DNA, Digital relative mutation dosage