[First experiences with amniocentesis from genetic indications].

Abstract

Genetically indicated amniocentesis was performed in 93 patients in the first half of pregnancy and in 36 in the second half. To the common and recognized indications several obstetric indications were added. Six (4.7%) fetal abnormalities were diagnosed by karyotyping and determination of alpha1-fetoprotein (AFP), i.e. a child with trisomy 21 and a boy with XXY Klinefelter syndrome, both in mothers aged over 40, a partial trisomy 3 in a pregnancy with a balanced anomaly, 2 boys with X-linked hereditary disease and an anencephalic. In 4 cases (3.1) abortion was performed at the parents' request. Three pregnancies ended in spontaneous abortion. In 54 cases in which amniocentesis was performed in the first half of pregnancy the babies have now been born. One was found to have a congenital heart defect and the remainder were healthy. In the cases which had undergone genetic screening during the second half of pregnancy 3 neonates displayed anomalies not detectable by karyotyping or AFP determination, one of which was hydrocephalus. The abortion rate was 0.8%.