21-hydroxylase deficiency primary prevention

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Overview

Prenatal diagnosis of 21-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment.

Primary prevention

• Prenatal diagnosis of 21-hydroxylase deficiency in those patients with positive family history, is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment.
• The available tests are: Amniotic fluid testing and oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus biopsies. Utilize fetal DNA extracted from maternal blood through noninvasive methods.