Prenatal diagnosis
The CGH array is a very powerful technique that allows gains or losses of genetic material to be detected in any part of the genome in a fast and efficient manner. Its sensitivity for detecting these types of mutations is much higher than that for other techniques, such as karyotyping.
CGX is a specific design of the CGH array that is particularly useful for analysing regions associated with known clinical phenotypes or syndromes caused by variations in the number of copies, thereby increasing its clinical utility and diagnostic precision.
CGX is the ideal technique for diagnosing genetic diseases or syndromes associated with major genomic deletions or duplications.
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Prenatal CGX array
IMEGEN’s CGX array is specifically designed to detect the main known genetic syndromes associated with gains or losses of genetic material with high sensitivity and to reduce the number of results that could lead to diagnostic uncertainty.
The CGX array can detect the genetic and chromosomal abnormalities responsible for 260 congenital syndromes associated with malformations and/or mental retardation with different degrees of severity.
This technique allows us to detect common, well-known chromosomal syndromes such as Down syndrome as well as other, less common ones.
In addition, this technique is performed using DNA, with no cell culture required. This means that the results are available in a shorter period of time and can be obtained using borderline or deteriorated samples, such as tissues obtained from miscarriages for example.
Under what circumstances should a prenatal CGH array be performed?
A prenatal CGH array is indicated in the following cases:
In pregnancies in which altered ultrasound markers are identified
When the results of foetal karyotyping show chromosome abnormalities, such as apparently balanced chromosomal translocations, chromosomal markers or complex reorganisations of an undetermined nature
The prenatal CGH array can also be performed in pregnant women with no altered ultrasound markers who are about to undergo an invasive test.
Other considerations
To perform a prenatal CGH array it is necessary to obtain a foetal sample by way of an invasive procedure, such as amniocentesis.
The prenatal CGH array must target genomic regions for which clinically interpretable information is available and with sufficient sensitivity in order not to generate uncertain results.
In any case, appropriate genetic counselling must be provided before and after the test given the possibility of obtaining findings of uncertain significance.