Test of Fetal Cells in Maternal Blood Shows Down Syndrome

A new automated test detects a specific gene in the fetal cells of the mother's blood that indicates the presence of Down syndrome.

The test has shown an accuracy rate approaching 100%, states Ikonisys, Inc. (New Haven, CT, USA), which developed the test. The company has developed a flexible diagnostics platform that integrates its Ikoniscope with existing FISH (fluorescence in situ hybridization) technology and its own CellOptics platform to locate the one or two fetal cells on a sample slide of maternal blood and then identify the wanted gene or genes. The company expects to begin clinical trials of the test, called Chromotest, in 2004.

Currently, thousands of amniocentesis procedures are performed every year by extracting amniotic fluid from the expectant mother's womb to determine the presence of Down syndrome. The procedure is invasive, unpleasant, expensive, and cannot be performed until the second trimester of pregnancy. Furthermore, results are not usually available for 10-14 days.

"The data we are presenting today in La Jolla [CA, USA] at the 70th annual meeting of the Central Association of Obstetricians and Gynecologists demonstrate that our automated tests are capable of 99.9% accuracy in detecting a specific gene in the fetal cells circulating in the mother's blood,” said Dr. Petros Tspouras, CEO of Ikonisys.




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