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.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000503:physiopathology; D000653:Amniotic Fluid / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis; D013256:Steroids / Q000032:analysis*; D014882:Water-Electrolyte Balance
D013256:Steroids