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.[1]

References

  1. Kazmi D, Bailey J, Yau M, Abu-Amer W, Kumar A, Low M, Yuen T (2017). "New developments in prenatal diagnosis of congenital adrenal hyperplasia". J. Steroid Biochem. Mol. Biol. 165 (Pt A): 121–123. doi:10.1016/j.jsbmb.2016.06.016. PMID 27378492.