What Is Panorama Genetic Testing?

Why is it that these genetic tests, in addition to being complicated in terms of science, also have a name that is by no means indicative of what they are testing? What is Panorama genetic testing and what does it do? Is it a simple screening test? Which group does it target?

You may get creative as you are trying to decipher what it means. Is it testing humans’ abilities to have panoramic views? Or something else? You are rightfully confused.

Put simply, Panorama genetic testing is a genetic test designed for pregnant women who would like to know very early on in their pregnancy about the health of their fetus. More specifically, the test is able to provide results about the babies’ potential health risks as well as genetic predispositions about several genetic diseases that lead to cognitive impairments as well as developmental delays. There are currently several prenatal tests on the market that can be used as a screening procedure very early on in pregnancy—and Panorama is one of them.

So, what exactly is Panorama genetic testing? In order to conduct the testing, pregnant women have their blood drawn. The test can look for signs within the mother’s blood—that contains the fetus’ DNA—for diseases such as Down Syndrome (trisomy 21), trisomy 18, trisomy 13, monosomy X and triploidy. In other words, Panorama is an insight into the fetus’ DNA by means of the mother’s blood. Depending on the physician’s recommendations, expecting mothers may also be urged to do additional testing that is included in Panorama’s extended panel. These include 22q11.2 deletion syndrome, 1p36 deletion, Cri-du-chat syndrome, Prader-Willi syndrome, and Angelman syndrome. A nice perk to the test is that it can determine the baby’s gender, although that is not the primary purpose of it.

So, let’s go a bit into the science of the panel of diseases that Panorama screens for. Before that, let’s go into a bit of genetics so that you can appreciate the explanations of the conditions that Panorama tests for.

A trisomy is a chromosomal disorder that is marked by an extra chromosome. Every healthy individual has a set of 23 chromosome pairs or a total of 46 chromosomes. One set was inherited from the mother and the other set from the father. Individuals with a surplus chromosome have 47 chromosomes or a trisomy. There are several trisomies, the most common of them being trisomy 21, or Down syndrome. Each trisomy is named based on the surplus chromosome. In the case of Down syndrome, individuals have an additional chromosome 21. Other than Down syndrome, Panorama tests for trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome), each of which is marked by cognitive as well as developmental delays in children.

Just as there are chromosomal abnormalities marked by too many chromosomes, there are also abnormalities marked by not enough of them. This condition is called monosomy X, and it refers to a situation in which females only have one X chromosome rather than two. Monosomy X, or Turner syndrome, can also be detected via Panorama.

Health defects in children

Furthermore, triploidies, similar to trisomies, are marked by an entire additional set of chromosomes. As this condition is also marked by health defects in children, the Panorama panel includes it as well.

In addition to the aforementioned, Panorama has an additional set of conditions that it can detect. This extended set includes conditions such as microdeletions, or regions in a chromosome that are missing. In particular, Panorama looks for the 22q11.2 and 1p36 deletions. The former affects chromosome 22, while the latter affects chromosome 1.

The Panorama extended panel also screens for Cri-du-chat syndrome, which is a deletion on chromosome 5 that can lead to several symptoms such as low birth weights, cognitive disabilities, and unusual facial features as well as behavioral problems.

Another condition that is screened for is Prader-Willi syndrome that results from a deletion in chromosome 15 (most often the father’s side) and causes symptoms such as some intellectual impairment and learning disabilities as well as behavioral and appearance abnormalities.

Last, but not least, Panorama also screens for a condition called Angelman syndrome that is a loss of gene located on chromosome 15 (more often the mother’s side) and causes abnormalities in the nervous system that manifest themselves as developmental and intellectual delay, speech impediment as well as movement problems (ataxia).

The Panorama genetic test prides itself on being highly accurate, with the lowest frequency of false positives (wrong reporting of positive results when there is no condition) among all prenatal tests.

Prenatal tests, in general, are recommended for women who are above the age of 35 at the time of pregnancy as a precautionary measure. This is because research has shown that the female’s reproductive system (the eggs, in particular) have been shown to begin aging at a marked speed after the age of 35. With this increase in aging come risks for chromosomal disorders, which is why prenatal tests are recommended.

Furthermore, tests such as Panorama are also recommended to women at all ages that have had any kind of abnormal ultrasound during the first trimester. The test can be taken as early as nine weeks into the pregnancy with incredible accuracies. An added perk to the tests is that they can reveal a baby’s gender.

What must be highlighted here, however, is that these tests are not a diagnosis. As such, they ought to be viewed as a kind of screening procedure that will indicate the chances of a female giving birth to a child with chromosomal abnormalities and the resultant birth defects. Even though the rate of false positives is incredibly low, the results should still be viewed as a prognostication rather than a diagnosis.

Laura Day
 

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