Weise W, Düker D
Zentralbl Gynakol. 1983;105(23):1481-98.
Prenatal diagnostic procedures were done following 1231 transabdominal amniocenteses in 1113 patients of a gestational age of 17.4 +/- 0.5 weeks. Partly parallel the following methods were used: 1218 estimations of alpha-fetoprotein, 903 chromosomal analyses, 89 amniofetographies, 40 fetoscopies and 7 estaminations of hormones, immunoglobulins and enzymes. Amniotic fluid could be obtained in 91.8 per cent with the first insertion of the needle, using the free-hand-needle-technique. In 8 per cent amniotic fluid samples were bloody. The amniocentesis had to be repeated in 7.6 per cent because of no growth of cells (6.3 per cent), or no amniotic fluid could be obtained (1.3 percent). In the average 14.9 +/- 8.1 metaphases were analysed and 2.9 +/- 1.1 karyogram were made. The organisation of prenatal diagnostics was explained. The indication was in 39.6 per cent the age, in 20.3 per cent the repeated risk of the birth of a fetus with trisomy 21. In 13.7 per cent there was an indication to estimate alpha-fetoprotein which was done nearly without exception for exclusion of neural tube defects. The prenatal determination of the fetal sex was necessary in 7.3 per cent in cases of X-chromosomal inheritable diseases. Previous deliveries of infants with malformation-syndrome or chromosomal trisomies like Edwards-or Patau-syndrome and radiation or chemotherapy of one of the parents were summarized under other indications (7.3 per cent). Balanced parental translocations were the indication in 1.7 per cent. Amniofetography was used in 8 per cent of the patients to exclude malformations caused by prevalent multiple factors. It was in 35 per cent the prevailing diagnostic method. The set of problems of its use was discussed. Fetoscopy (3.6 per cent) partly was an additional diagnostic procedure partly a leading method. By means of a catalogue of indications it was referred to the use of fetoscopy to visualization in prenatal diagnostics. The exclusion of genetic metabolic defects was the motive to prenatal biochemic investigations in 0.5 per cent. The prerequisites of devices and technique to prenatal diagnostics were discussed.
对1113名孕周为17.4±0.5周的孕妇进行了1231次经腹羊膜腔穿刺术，并进行了产前诊断程序。部分采用了以下并行方法：1218次甲胎蛋白测定、903次染色体分析、89次羊膜腔造影、40次胎儿镜检查以及7次激素、免疫球蛋白和酶的检测。采用徒手穿刺技术，首次穿刺时91.8%的孕妇可获取羊水。8%的羊水样本有血性。因细胞未生长（6.3%）或未获取到羊水（1.3%），7.6%的孕妇需重复进行羊膜腔穿刺术。平均分析了14.9±8.1个中期分裂相，制作了2.9±1.1张核型图。对产前诊断的组织情况进行了解释。指征方面，39.6%是年龄因素，20.3%是胎儿21三体综合征出生的复发风险。13.7%的孕妇有指征进行甲胎蛋白测定，几乎无一例外是为了排除神经管缺陷。在7.3%的X染色体遗传性疾病病例中，产前确定胎儿性别是必要的。既往分娩过畸形综合征或染色体三体病（如爱德华兹综合征或帕陶综合征）患儿，或父母一方接受过放疗或化疗等情况归为其他指征（7.3%）。平衡的父母染色体易位是1.7%的指征。8%的患者使用羊膜腔造影来排除由多种常见因素导致的畸形。它在35%的情况下是主要的诊断方法。讨论了其使用中的一系列问题。胎儿镜检查（3.6%）部分是辅助诊断程序，部分是主要方法。通过一份指征目录介绍了胎儿镜检查在产前诊断中的可视化应用。0.5%的情况下，排除遗传性代谢缺陷是进行产前生化检查的动机。讨论了产前诊断设备和技术的前提条件。
