Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Abstract

There is a paucity of data concerning the feasibility of the early antenatal diagnosis of congenital adrenal hyperplasia (CAH). Jeffcoate et al.1 reported elevated amniotic fluid 17-keto-steroid and pregnanetriol levels in a patient at term carrying a fetus with CAH. Nichols2 and Nichols and Gibson3 reported high amniotic fluid pregnanetriol levels in two other patients in term pregnancies. In contrast, Merkatz et al.4 found normal amniotic fluid 17-ketosteroid and pregna-netriol levels in two other patients carrying fetuses with CAH who had repeated amniocenteses at 26, 30, 35, 38, and 33 and 37 weeks gestation. New5 also noted that in his experience, 17-ketosteroid or pregnanetriol levels in amniotic fluid were not useful for the antenatal diagnosis of CAH.