7 PRENATAL TREATMENT IN CONGENITAL ADRENAL HYPERPLASIA (CAH): FIVE GASES EXPERIENCE IN TWO YEARS

Abstract

Since there is a 25% probability for a couple with a CAH affected child to have another affected child, the CAH prenatal diagnosis has been searched in the last 10 years. The main objective is to avoid the virilization of the external genitalia and, so, to reduce the social and psychological implications repercussions, and to reduce surgical corrections. We are following 30 families with CAH in our Services. Two years ago we initiated the prenatal treatment of the pregnant women with CAH children. We followed 4 pregnancies (1 of them were twins). The protocol used was: pregnancy diagnosis with BHCG; Dexamethasone (0.75 mg twice) starting at the 8th week and amniocentesis to perform the karyotype close on the 16th week. The treatment was stopped when the fetus was a male, and it was maintained the whole pregnancy when the fetus was a female. Among the 4 male newborns, 2 were normal (monozygotic twins) and 2 were affected (both with virilizing form); the female newborn had a severe saltlosing form, a cleft palate and no genital ambiguity. Our next aim will be the exact CAH prenatal diagnosis.