Emery A E, Beighton P
S Afr Med J. 1982 Aug 14;62(8):235-7.
In the past decade dramatic developments have taken place in antenatal diagnosis. Various techniques are now fully established as routine procedures and these are applicable to several categories of genetic diseases. Transabdominal amniocentesis is currently the most important method for the prenatal diagnosis of chromosomal conditions, neural tube defects and biochemical disorders. Ultrasonography is playing an increasingly important role in the detection of malformations, while fetoscopy is now employed for fetal blood sampling, biopsy and visualization. Recombinant DNA techniques hold great promise for the intra-uterine diagnosis of common and important disorders in which the fundamental defect is unknown.
在过去十年中，产前诊断取得了巨大进展。现在，各种技术已完全确立为常规程序，并且适用于几类遗传疾病。经腹羊膜穿刺术目前是产前诊断染色体疾病、神经管缺陷和生化紊乱的最重要方法。超声检查在畸形检测中发挥着越来越重要的作用，而胎儿镜检查目前用于胎儿采血、活检和可视化。重组DNA技术对于宫内诊断病因不明的常见和重要疾病具有巨大潜力。
