Test for Early Detection of Genetic Disorders Evaluated

A noninvasive test for the early detection of chromosomal abnormalities provides pregnant women with fast and accurate detection of genetic disorders. Early detection of conditions including Down's syndrome provides solutions that eliminate the need for repeat testing.

A clinical trial is taking place to establish accuracy and efficacy in the detection of trisomy 21 in circulating fetal cells. Led by Prof. Kypros Nicolaides, from King's College Hospital (London, UK), the trial aims to validate the use of circulating fetal cells in early prenatal detection of Down's syndrome within the first trimester of pregnancy.

Supported by the CellOptics platform, the test was developed by Ikonisys (New Haven, CT, USA), a provider of noninvasive, cell-based, diagnostic solutions. A unique integration of intelligent imaging, microscopy, biology, and informatics, the test utilizes the company's Ikoniscope, a robotic, optical microscope that offers labs high operational throughput, remote access, and increased accuracy. The Ikoniscope provides fully automated slide handling, complete slide scanning, real-time image capture, and analysis. It enumerates and classifies cellular nuclei, completely unattended, so that technologists can focus on sample classification and interpretation. This platform supports the automation of standard tests, as well as Ikonisys advanced rare cell detection applications. Both provide a noninvasive, highly accurate alternative to existing technologies

The fastFISH amnio is an imaging application for the Ikoniscope that provides automated identification of numerical aberrations of chromosomes associated with common birth defects. fastFISH amnio, an application in the company's fastFISH suite of products, allows for the automated identification and enumeration of chromosomes 13, 18, 21, X, and Y in amniotic fluid cells via fluorescence in situ hybridization (FISH).

"Although medical research and new technologies have enabled some genetic disorders to be detected throughout the first and second trimesters, there is still a false-positive rate of 3-5%. Unfortunately, this often translates to a need for several more invasive procedures,” said Prof. Nicolaides, the director of the Harris birthright research center for fetal medicine at King's College. "Through noninvasive testing of maternal fetal cells, we hope to replace a large portion of invasive testing, while simultaneously improving upon the detection rate and safety for detecting Down syndrome and other genetic disorders.”

The start of the clinical trial was announced at the Society for Maternal-Fetal Medicine (SMFM) annual meeting held in Dallas (TX, USA) from January 28 to February 2, 2008.


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King's College Hospital
Ikonisys