本文介绍遗传病产前基因诊断的新进展,包括①有遗传病发病风险的胎儿DNA的四种来源:羊水细胞、胎盘绒毛、孕妇外周血、植入前胚胎囊胚或其细胞;②遗传病产前基因诊断的主要方法:寡核苷酸探针法、联锁分析法、限制性内切酶片段长度多态性、突变位点直接分析法及多取酶链反应法。 This article describes new advances in genetic diagnosis of prenatal genetic diseases, including: ① genetic risk of fetal DNA from four sources: amniotic fluid cells, placental villi, pregnant women, peripheral blood, preimplantation embryo blastocysts or their cells; ② genetic disease The main methods of prenatal gene diagnosis: oligonucleotide probe method, linkage analysis, restriction fragment length polymorphism, direct analysis of mutation sites and enzyme chain reaction method.