[Genetic amniocentesis: technique and results in 1,000 first trimester amniocenteses (author's transl)]

The results of 1,000 transabdominal amniocenteses between 15 and 20 weeks gestation are reported. The method is described. The bio-chemical and cytogenetic results are reported. - Amniocentesis in the first trimester is not a routine investigation since fetal and maternal risks are associated with this procedure. The risk of abortion following amniocentesis was lowered from 6/1000 to 2/500 by improvement of the technique under ultra-sound control. The worst maternal complication observed was a septic abortion one day after amniocentesis. 96% of all cyto-genetic examinations showed normal karotypes. The largest group at risk were mothers over 35 years of age. In this group chromosome anomalies were found in 17 cases. All neural tube defects were found by determination of the alpha-fetoprotein in the amniotic fluid. 26 terminations of pregnancy for fetal indications were carried out. Two patients refused therapeutic abortions despite trisomy 21 for ethical reasons. One patient continues her pregnancy with a 47 XYZ pregnancy.