Prenatal Assay for Chromosome Abnormalities

A new DNA-based diagnostic assay rapidly detects Down syndrome, Edwards syndrome, Patau syndrome, and other common chromosome abnormalities.

The assay in simple, one-tube kits comes ready to use and provides definitive results within only four hours, a fraction of the time required by current cytogenetic techniques, which can take up to two weeks to provide diagnoses. The kits are fully validated for in vitro use and are suitable for both chorionic villus (CV) and amniotic fluid analysis.

The kits, called QST, were developed by Tepnel Diagnostics (Manchester, UK; www.elucigene.com) in collaboration with Guy's and St. Thomas' National Health Service (NHS) Foundation Trust (London, UK). The kits join Tepnel's existing line of Elucigene products, which includes diagnostic kits for cystic fibrosis screening, mutation detection in Ashkenazi populations, and predisposition testing for deep vein thrombosis.

The QST assay uses quantitative fluorescence polymerase chain reaction (QT-PCR) in a highly multiplexed assay that can be performed on a standard capillary genetic analyzer. The technique comprises a three-step process: DNA extraction (20 minutes), QT-PCR amplification (2.5 hours), and analysis (60 minutes). Around 8% of CV and amniotic samples tested exhibit an abnormality.

"We are very pleased to extend the Elucigene family of diagnostic products to include the new QST kits for the detection of foetal chromosomal abnormalities,” said Mike Webb, general manager of Tepnel Diagnostics. "The global market size for prenatal aneuploidy testing is estimated to be $50 million.”



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Tepnel Diagnostics