Related Experiment Video
Updated: Oct 14, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia
1Department of Chemical Pathology, University College and Middlesex School of Medicine, London.
Abstract:
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.
More Related Videos
12:32Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022