Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis.

The concentration of 170H-progesterone was measured in amniotic fluid samples collected from 55 mothers who had previously had a child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In eight pregnancies the levels of 170H-progesterone were raised; the parents elected to terminate in four and examinations of the fetus confirmed the diagnosis of congenital adrenal hyperplasia. In each case, the affected sib was a salt loser. The remaining four affected pregnancies proceeded to term and each infant had salt losing 21-hydroxylase deficiency. All 47 infants predicted to be unaffected were normal at birth. However, an increased plasma concentration of 170H-progesterone was documented in a male non-salt loser at three months of age. Prenatal diagnosis of congenital adrenal hyperplasia by amniotic fluid steroid analysis is reliable only for the salt losing variant of 21-hydroxylase deficiency. Of the affected sibs in this study, 20% died during infancy in a salt losing crisis. This simple and rapid prenatal test is sufficiently reliable to predict the group of infants most at risk in early infancy.