What Is Harmony Genetic Testing? Is It Needed?

Let’s begin by looking at what Harmony genetic testing is before deciding if it is the right approach for you. It is not a type of genetic testing that investigates your predisposition to being harmonious. While there surely might be a genetic marker for that, this test is not it.

So, what does it test for? The Harmony genetic test is a prenatal test, meaning that it is a test conducted during pregnancy. The harmony prenatal test looks for the most common chromosomal conditions such as trisomies, sex chromosome aneuploidies and something called a 22q11.2 microdeletion, and we’ll go into each one of these a little.

Physicians believe in the Harmony test because the data that exists in its support is powerful – more than 1.4 million women have undergone the testing in more than 100 countries worldwide. Furthermore, more than 148,000 samples were analyzed in peer-reviewed publications. Having looked at data from so many individuals and with so many data points, it has proven to be the most accurate among the cell-free DNA prenatal tests that are available. Its performance in both high- and average-risk pregnancies has been rated to be superior.

But let’s back up a bit. What is it? What is cell-free DNA testing? Why are so many women doing this test? And what does the increased risk involve?

The Harmony prenatal test is fundamentally a blood test, whereby a pregnant woman has her blood drawn at 10 weeks or later and is non-invasive prenatal testing (NIPT). The blood is sent to a laboratory to be analyzed, and the results are available within less than 10 business days. As mentioned, it tests for three conditions, and the explanations are below.

Each one of the human cells typically has a total of 23 pairs of chromosomes. When this is not the case, and there is a presence of an extra chromosome in the cells, it is referred to as trisomy. In terms of nomenclature, they are named based on the chromosome of which the extra copy is found. For example, if someone has trisomy 21, the extra copy is of chromosome 21. The Harmony test specifically screens for trisomy 21 (Down syndrome), trisomy 18 and trisomy 13.

Sex chromosome aneuploidies refer to an individual having a different number of sex chromosomes than either the two X chromosomes (a female who has inherited an X chromosome from each of the parents) or one X chromosome and one Y chromosome (X from the mother and Y from the father). The sex chromosome aneuploidies that Harmony screens for are XXY (Klinefelter syndrome with primary symptoms being infertility and small testicles) and Monosomy X (Turner syndrome that affects development in females).

Similar to Down syndrome

Lastly, a microdeletion literally refers to a small piece of a chromosome that is missing. It is straightforwardly named after the piece of chromosome that is no longer there. So, the 22q11.2 microdeletion that Harmony looks for is located on the upper portion of the long arm of chromosome 22. This condition is marked by cognitive impairments as well as heart problems, similar to Down syndrome just not as common.

Harmony looks for the aforementioned conditions by means of cell-free DNA. This means that the test screens for the diseases based on the baby’s DNA that is floating in the mother’s blood. Once drawn, the blood undergoes several laboratory techniques to isolate the DNA and look for the markers.

Obviously, this isn’t about the baby’s gender but instead focuses on chromosome conditions. So, why are so many women doing Harmony testing? The testing is recommended for women who have chosen to become pregnant at an advanced age. Advanced age within the pregnancy realm is considered to be a pregnancy at 35 years or older. This has a lot to do with the aging of the eggs after the age of 25 (which is said to double by the age of 35 and then goes up to 50 percent by the mid-40s). Given these findings, it is important for pregnant women who are 35 or older to have genetic screening done as the speed of egg aging is that much higher. This, in turn, is related to the health of the fetus.

At this point, you may be wondering about the “do you need it?” part of the post. You don’t have to do anything if you choose that route. In days gone by, women had children without a single diagnostic test. Even not that long ago, women had prenatal testing only a few times during their pregnancy and certainly not anything close to what is available to pregnant women now. However, just because you don’t have to do any prenatal testing does not mean you shouldn’t. While there is potential uneasiness to it—and the last thing you need is uneasiness during your pregnancy bliss—there is also comfort in finding out the potential health challenges of your baby or simply the fact that it will be healthy. Having said that, if you are over the age of 35, or if anyone in your family has any of the aforementioned conditions, you should get tested simply to remain informed. (It is much easier to care for a child with special needs knowing in advance that it will be the case rather than it being a surprise.) However, as mentioned above, you don’t have to. This is a deeply personal choice, after all.

Ultimately, if you do choose to get tested, it ought to be highlighted that Harmony is a screening test and not a diagnostic test. What that means is that it will look for (or screen) for the markers that are indicative of a disease rather than diagnose with it. Also, the test does not screen for every possible genetic condition that exists other than those they list that we have covered above.

Laura Day
 

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