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

This release is available in Spanish.

Genetadi Biotech has presented to the scientific community meeting at the XXVI National Congress on Human Genetics held in Murcia - a prenatal diagnostic device based on amniocentesis. More concretely, it is based on microarray technology (genomic hybridisation genetic chips) and with a diagnostic resolution 100 times greater than the common cytogenetic techniques. The new device, known as Amniochip, is able to detect 150 genetic genetic syndromes. "This involves currently validated genetic syndromes, including malformations and idiopathic mental deficiency not detected with a conventional kariotype", explained Ms Silvia vila, co-director of Genetadi.

The scientists pointed out that one of the advantages of this innovative technique is the fact that "a cell culture is not necessary". Thus, "the waiting time for the results with the new device drops to 48 hours, in contrast to the three weeks it currently takes through conventional kariotype technique".

Nevertheless, from a clinical perspective, the procedure for the diagnosis does not vary, starting with a standard amniocentesis undertaken by the specialist gynaecologist. "The sample of amniotic liquid does not differ at all from the current amniocentesis procedure", explained doctor vila. "With the Amniochip only 8 or 10 ml of amniotic liquid are necessary in a tube, and which is sent to a laboratory via messenger, exactly as with the usual genetic trials".

The application of this new technology, through a prescription from the specialist in gynaecology and obstetrics, is especially suitable for all those pregnant women who require a conventional genetic study (kariotype or FISH). That is, those suspected from ecographs of having malformations, or with positive triple marker, or the over 35s. It is also suitable for couples with a history o
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Contact: Oihane Lakar
o.lakar@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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