Prenatal diagnosis of congenital adrenal hyperplasia

Abstract
The accurate prenatal diagnosis of 21‐β‐hydroxylase deficiency, based on amniotic fluid levels of 17‐hydroxyprogesterone, is documented for a fetus 14½ weeks old. In addition, family HLA genotyping data are consistent with the purported linkage between the HLA locus and the locus for 21‐β‐hydroxylase.