Prenatal diagnosis of congenital adrenal hyperplasia

Abstract

The accurate prenatal diagnosis of 21-beta-hydroxylase deficiency, based on amniotic fluid levels of 17-hydroxyprogesterone, is documented for a fetus 14 1/2 weeks old. In addition, family HLA genotyping data are consistent with the purported linkage between the HLA locus and the locus for 21-beta-hydroxylase.