介入性产前诊断是指通过有创的穿刺技术获取胎儿成分(主要包括羊水、脐带血、胎儿组织或胎盘组织),其主要目的是对胎儿进行染色体核型分析,也可用于遗传病的基因检测,以达到在宫内诊断胎儿先天性疾病的目的。介入性产前诊断技术是产前诊断工作实施中的重要环节,其技术主要包括:羊膜腔穿刺、绒毛活检、脐静脉穿刺。各种技术各有特点,互为补充,为开展胎儿先天性疾病的产前诊断提供重要途径。介入性产前诊断为有创性操作,需要权衡穿刺的指征和风险,获得患者的知情同意,并需要一定的技术和条件。 Interventional prenatal diagnosis refers to fetus components (mainly including amniotic fluid, umbilical cord blood, fetal tissue or placenta tissue) obtained through invasive puncture technique. The main purpose of this method is to analyze the karyotype of the fetus and also to use genetic genes Detection, in order to achieve the purpose of intrauterine diagnosis of fetal congenital diseases. Interventional prenatal diagnosis is an important link in the implementation of prenatal diagnosis. The techniques include: amniocentesis, villus biopsy and umbilical vein puncture. Various technologies have their own characteristics, complement each other, to provide prenatal diagnosis of fetal congenital diseases provide an important way. Interventional prenatal diagnosis is an invasive procedure that requires weighing the indications and risks of puncture, obtaining informed consent from patients, and requiring certain skills and conditions.