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

Pre-natal diagnosis of 21-hydroxylase deficiency is established to prevent complications of the disease in future life and treated with pre-natal dexamethasone.

Primary Prevention

• Pre-natal diagnosis of 21-hydroxylase deficiency in patients with positive family history is established to prevent complications in future. A positive diagnosis is treated with prenatal dexamethasone.
• The tests available for making a pre-natal diagnosis of 21-hydroxylase deficiency include:
  • Amniotic fluid testing
  • Oligonucleotide hybridization of deoxyribonucleic acid (DNA) obtained from chorionic villus sampling utilizes fetal DNA extracted from maternal blood through non-invasive methods.

References

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