Schmid W
Soz Praventivmed. 1985;30(1):18-22. doi: 10.1007/BF02075723.
In Swiss laboratories of Basel, Berne, Geneva, Lausanne, Locarno and Zurich 19'872 prenatal diagnosis were carried out from 1971 to 1983. The frequency of the tests carried out for the different indications and the numbers of the detected anomalies are presented. In 12'485 tests performed because of advanced maternal age (35 years and older) 241 chromosome anomalies were diagnosed with 125 trisomies 21 among them. In contrast, only 7 trisomies 21 were found in 5'225 samples from women below 35 years. Prevention of Down's syndrome was the prevalent motivation of 93 percent of the pregnant women. Approx. 42 percent of the Swiss women, 35 years and older, requested an amniocentesis in the course of the last few years. Remarkable progress was made in the ultrasound diagnosis of fetal malformations. Developments in the field of first trimester prenatal diagnosis and in the use of DNA technology for the diagnosis of monogenic defects are dealt with.
1971年至1983年期间，瑞士巴塞尔、伯尔尼、日内瓦、洛桑、洛迦诺和苏黎世的实验室共进行了19872例产前诊断。文中列出了针对不同指征所进行检测的频率以及检测出的异常情况数量。在因孕妇年龄偏大（35岁及以上）而进行的12485例检测中，诊断出241例染色体异常，其中125例为21三体综合征。相比之下，在35岁以下女性的5225份样本中，仅发现7例21三体综合征。预防唐氏综合征是93%孕妇进行检测的主要动机。在过去几年中，约42%的35岁及以上瑞士女性要求进行羊膜穿刺术。胎儿畸形的超声诊断取得了显著进展。文中还讨论了孕早期产前诊断领域以及利用DNA技术诊断单基因缺陷方面的进展。
