Prenatal diagnosis of genetic disease. A report on 200 amniocenteses

The results of 200 prenatal diagnoses following amniocentesis are summarized. The routine withdrawal of 40 to 45 ml amniotic fluid caused no increase in maternal morbidity, fetal loss, prematurity or congenital malformations. There were no culture failures and in all cases in which amniotic fluid was obtained the prenatal diagnosis was subsequently confirmed. Electron microscopy was used in the prenatal diagnosis of a newly described metabolic storage disease (mucolipidosis IV). Eleven abnormal fetuses and one male fetus at risk for hemophilia A were diagnosed and aborted.