Assays / Hormones / 17a-Hydroxyprogesterone (amniotic fluid)

Clinical Use
Antenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

This enzyme defect is expressed in utero and leads to excessive production of 17a-hydroxyprogesterone, which accumulates in the amniotic fluid.

Patient Preparation
Amniocentesis for this purpose should be performed between 14 and 20 weeks of gestation.

Sample Preparation
Send clear, blood-free, amniotic fluid (2 mL) to the SAS laboratory.

Reference Ranges
Unaffected fetus: 5 - 35 nmol/L;

Affected fetus: >38 nmol/L.

Centre offering this assay
Cardiff

References
Hughes IA, Dyas J, Riad-Fahmy D and Laurance KM. Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis. J Med Genetics 1987; 24: 344-347.

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