Genetadi Biotech (Derio, Spain) has developed a chip that is capable of detecting 150 different genetic syndromes from a few milliliters of amniotic fluid. It uses comparative genomic hybridization micro-array technology to identify areas with differences in hybridization between patient and control DNA. This technology allows for a diagnostic resolution much higher than with conventional techniques and spots several syndromes not detected with regular karyotypes. For the patient the procedure has not changed – an amniocentesis is still needed to collect the amniotic fluid, which is only recommended in pregnant women at risk for carrying a fetus with a syndrome. Results are available much faster though, within 48 hours. The Amniochip was presented at the XXVI Spanish National Congress on Human Genetics. A short overview of the technology from, the press release:
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)”.
Press release: Genetadi presents new technology capable of prenatal detection of 150 genetic syndromes from an amniocentesis…
Product page: Amniochip…