最近介绍的几种遗传学技术促进了对某些遗传性代谢病和染色体异常的产前诊断:如非损伤性方法对单细胞或极少数细胞的代谢性研究;分裂间期细胞的原位杂交;聚合酶链反应(PCR)的基因扩增。这些技术也能在胚胎发育阶段的胚泡期进行产前诊断。当用于检测体外受精并在临床上表明胚胎转移的植入前胚胎的遗传病无疑也具有极大的适用性。然而,这些技术尽可能应用于携带已知异常基因或可疑携带异常基因的配偶,以及可能产生染色体异常子代风险的配偶。应用这些技术越来越引起人们重视,因为从 Several recent genetics techniques have facilitated the prenatal diagnosis of certain hereditary metabolic and chromosomal abnormalities such as metabolic studies of single or very few cells by non-invasive methods; in situ hybridization of interphase cells ; Gene amplification by polymerase chain reaction (PCR). These techniques also allow for prenatal diagnosis at the blastocyst stage of the embryonic development. Genetic diseases of preimplantation embryos that are used to detect in vitro fertilization and clinically demonstrate embryo transfer are undoubtedly of great applicability. However, as far as possible, these techniques are applied to spouses carrying known abnormal genes or suspiciously-associated abnormal genes, as well as spouses at risk of developing chromosomal abnormalities. The application of these technologies has drawn increasing attention because of