In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.

Abstract excerpt

A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.

Topics

• Adrenal Hyperplasia, Congenital
• Base Sequence
• Blotting, Southern
• Chorionic Villi Sampling
• Female
• Humans
• In Vitro Techniques
• Molecular Sequence Data
• Mutation
• Nucleic Acid Amplification Techniques
• Pregnancy