Prenatal diagnosis of adrenogenital syndrome by amniocentesis

Concentrations of 17-ketosteroids and of pregnanetriol were determined in amniotic fluid from 26 women with normal pregnancies and from 2 pregnant women who had previously given birth to infants with congenital adrenal hyperplasia and whose subsequent pregnancies also resulted in infants with the disease. Pregnanetriol concentration of amniotic fluid was measured by a new double isotope dilution derivative technique capable of measuring microgram levels of pregnanetriol. The presence of the disease could not be predicted during early or mid-pregnancy, but values for both 17-ketosteroids and pregnanetriol were suggestively elevated in amniotic fluid obtained at term from affected pregnancies.