[The steroid content of the amniotic fluid in the 1st and 2nd pregnancy trimesters in 21-hydroxylase insufficiency and in fetal central nervous system defects].

A total of 103 samples of amniotic fluid obtained by transabdominal amniocentesis were examined, 52 of these from women at a high risk of giving birth to children with congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and 30 ones with fetuses with different neural tube malformations. 17-Hydroxyprogesterone was found to be a reliable marker indicating the disease in fetuses from the group at risk of hereditary 21-OH deficiency. This marker can be effectively used as early as in the 1 gestation trimester. Fetal CNS defects are associated with hypofunction of the adrenal cortex in the II gestation trimester, observed in 60-63% of cases with hydrocephalus, anencephaly, or microcephaly. Since the function of fetal adrenals is of paramount importance for the development and maturation of a fetus, it should be examined in case of developmental defects of the neural tube, in order to predict the effect of prenatal treatment.