Amniochip detects 150 genetic syndromes from amniotic fluid
14 April 2011
Genetadi Biotech has developed a prenatal diagnostic device
that has a diagnostic resolution 100 times greater than common
The new device, known as Amniochip, is able to detect 150 genetic
syndromes using microarray technology to analyse amniotic fluid. The
device can produce a result in 48 hours compared to the three weeks
it currently takes through conventional kariotype technique.
“This involves currently validated genetic syndromes, including
malformations and idiopathic mental deficiency not detected with a
conventional kariotype”, explained Dr Silvia Ávila, co-director of
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
Dr Ávila. “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 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 of 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 Ávila.
The new device for enhanced prenatal diagnosis is based on
comparative genomic hybridisation (aCGH) microarray technology.
Using this technique, the sample to study and a reference are marked
with different fluorochromes. The DNA hybridises 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 hybridisation between the patient and the DNA control,
thus indicating the existence of an alteration in its dosage.