PRENATAL-DIAGNOSIS AND TREATMENT OF CONGENITAL ADRENAL-HYPERPLASIA

Advances in technology have made possible the prenatal diagnosis and t reatment of female fetuses with classical congenital adrenal hyperplas ia due to 21-hydroxylase deficiency. Hormonal measurement of 17-hydrox yprogesterone, androstenedione, testosterone and 21-deoxycortisol and HLA typing and DNA analysis for 21-OH/C4/HLA class I and II genes in c horionic villus cells and amniocytes are utilized for prenatal diagnos is. Maternal dexamethasone administration begun in the first trimester has prevented or ameliorated virilization in approximately three-four ths of infants. Maternal estriol levels appear to be the most accurate measure of fetal adrenal suppression. Maternal side effects are not i nfrequent and include excess weight gain, edema, glucose intolerance, hypertension and gastrointestinal problems. Severe permanent striae ha ve been reported. Although no complications of prenatal treatment in t he treated fetus or child have been reported longterm follow-up with c areful neuropsychologic evaluation is not yet available and is necessa ry to fully evaluate possible long-term side-effects of prenatal dexam ethasone treatment.