Molecular Prenatal-Diagnostic Device Based On Amniocentesis

Microarray technology has been applied to the diagnosis of genetic syndromes during development of the fetus.

The microarray system uses genomic hybridization genetic chips with a diagnostic resolution 100 times greater than the common cytogenetic techniques.

A standard amniocentesis is undertaken by the specialist gynecologist and only 8 mL - 10 mL of amniotic liquid are put in a tube, which is sent to a laboratory via messenger, exactly as with the usual genetic tests. The new device, known as Amniochip, is able to detect 150 genetic syndromes. This includes currently validated genetic syndromes, including malformations and idiopathic mental deficiency not detected with a conventional kariotyping. As a cell culture is not necessary, the waiting time for the results with the new device is reduced to 48 hours, in contrast to the three weeks it currently takes through conventional kariotype techniques

The device for enhanced prenatal diagnosis, developed by Genetadi Biotech SL, (Derio, Spain) is based on Comparative Genomic Hybridization microarray technology. In this technique, the sample under study and a reference sample are marked with different fluorochromes. These DNA hybridize on a crystal that 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 hybridization between the patient and the DNA control, thus indicating the existence of an alteration in its dosage, either a micro-deletion or a micro-duplication.

The prenatal device was presented during the XXVI Human Genetics National Congress, held from March 30 to April 1, 2011, in Murcia, Spain.

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Genetadi Biotech SL