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New technology capable of detection of 150 genetic syndromes from an amniocentesis
Date:4/5/2011

f miscarriage, or with a family history of genetic syndromes.

In those cases in which the research using this new technology found a result with doubtful clinical significance, "the DNA of the two progenitors were also analysed; in order to discard any family polymorphic alterations", explained Dr vila.

Scientific basis

The new device for enhanced prenatal diagnosis, developed by Genetadi "is based on Comparative Genomic Hybridisation" (aCGH) microarray technology. Using this technique, "the sample to study and a reference are marked with different fluorochromes. These DNA hybridise on a crystal which contains thousands of different segments of human DNA. The regions selected on the Amniochip belong to regions of the human genome involved in more than 150 already known syndromes. Subsequently, computer software is used to identify the areas of differential hybridisation between the patient and the DNA control, thus indicating the existence of an alteration in its dosage (microdeletion or microduplication)".


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Contact: Oihane Lakar
o.lakar@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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