Long Range Outcome of Prenatal Treatment

Abstract

Prenatal diagnosis and treatment has been carried out since 1986. The prenatal diagnosis is based on DNA analysis of fetal tissue obtained by amniocentesis or chorionic villus biopsy. Because the genetic analysisis usually not available before treatment with low-dose dexamethasone, all fetuses are treated until the diagnosis of CAH is genetically secured. Congenital adrenal hyperplasia is transmitted as an autosomal recessive trait; both male and female fetuses are at risk. As only affected female fetuses require treatment and male fetuses and unaffected female fetuses do not require treatment, seven out of eight fetuses are temporarily treated unnecessarily. We have evaluated the long-range effect of prenatal low-dose dexamethasone treatment in male and female fetuses who are now 12 years and older. The data include male and female fetuses treated or not treated with low-dose dexamethasone treatment. The following parameters were evaluated: (1) medical outcome including diabetes, hypertension, and fractures and (2) psychoendocrine outcome including cognition, gender, behavior, and performance. This was a collaboration between the USA (indicated as A) and France (indicated as Fr). The number of patients with CAH both males and females who were studied, including patients salt wasting CAH (SW), patients with the simple virilizing form of CAH (SV), and patients with non-classical CAH (NC), and patients not affected with CAH (no CAH) is depicted in this chapter. There were 78 patients who were not treated, 4 who were partially treated, and 14 who were treated throughout pregnancy for a total of 136 patients