What Genetic Testing Can Tell You

What Genetic Testing Can Tell You

Prenatal genetic testing is a novel yet valuable service you can get during your pregnancy’s first trimester. Genetic testing is optional, but unlike other tests you get during pregnancy, the results give you insight into your child’s genetic health risks. 

The testing can even lead to pre-birth diagnoses of a number of genetic disorders.

Our team of experts at The Association for Women’s Health Care in Northbrook, Illinois, and The Loop in Chicago provide genetic testing on request for many inherited disorders. You might be especially interested in genetic testing during pregnancy if you:

Genetic tests evaluate the DNA of your fetus long before your due date. 

You can get carrier screening for yourself and your partner initially to identify tiny changes in your genes that increase the risk of passing on genetic abnormalities, or you can get fetal DNA screenings using fetal DNA fragments from your blood or placenta. 

What you can learn from genetic testing

If you’re weighing your options for genetic testing, consider the specific information prenatal genetic testing offers. Your results can inform you of a high risk for lifelong genetic disorders such as:

Sickle cell anemia

Sickle cell anemia is most prevalent among certain ethnic groups, particularly those of African or Mediterranean heritage. Although the prevalence is particularly high in these populations, that doesn’t mean the condition is exclusive to them. 

Sickle cell anemia alters the shapes of some of your child’s red blood cells. While typical red blood cells are round and supple, sickle cells are in a pointed crescent shape that doesn’t flow through your veins and arteries as smoothly. 

An array of symptoms can result from sickle cell anemia including:

There is no cure for sickle cell anemia, but treatments are available to improve quality of life and reduce the symptoms. 

Tay-Sachs disease

Tay-Sachs disease is another genetic disorder that is more prevalent among specific populations than others, including those with French Canadian ancestry and Ashkenazi Jewish ancestry. 

It’s a rare and fatal disorder that progressively destroys the nervous system. While Tay-Sachs may not show symptoms until a child’s sixth month or so, genetic testing lets you identify it long before birth. 

Canavan disease

Canavan disease is another inherited disorder that progressively damages the nervous system, specifically the insulating myelin around nerve fibers. It’s extremely rare with a prevalence of about one in 100,000 births, but like Tay-Sachs, it’s much more prevalent among people of Ashkenazi Jewish descent. 

Familial dysautonomia

Continuing with inherited neurological disorders, familial dysautonomia is another you can identify with prenatal genetic testing. It primarily affects the autonomic nervous system, which controls your involuntary functions like breathing and digestion. Sensory nerves may also be affected. 

Many familial dysautonomia symptoms occur during childhood and adolescence, including delayed development and breath-holding for prolonged time periods. 

Complications such as balance problems and poor kidney function can affect a person’s quality of life well into adulthood too. 

Spinal muscular atrophy

Spinal muscular atrophy involves muscle weakness due to a lack of specialized motor nerve cells in the spinal cord and brainstem. 

There are four different types causing a wide range of neuromuscular complications during childhood, adolescence, and adulthood. Type 1 may shorten your child’s lifespan, but the other three types often do not. 

Gaucher disease

Gaucher disease is an inherited disorder with two different types: One that affects neuromuscular function and one that does not. Both types can affect many different organs and systems, including your liver, spleen, blood, and bones. 

The former type also affects your central nervous system and can cause life-threatening complications. 

Down syndrome

Some forms of prenatal genetic testing can identify Down syndrome, an inherited disorder characterized by an extra chromosome. Most people have 23 pairs of chromosomes totaling 46, but people with Down syndrome have a 47th. 

It can lead to specific physical characteristics like slanted eyes and a flattened nose bridge, but not everyone with Down syndrome has these traits. It can also come with intellectual disabilities. 

What happens next?

We interpret your genetic test results and answer your questions about any positive results. A positive result means that your child has a higher-than-average risk of developing a given genetic disorder. 

You can speak with a genetic counselor about your pregnancy and any genetic risks associated with it. They can assist you by offering:

If you’re interested in exploring options for genetic testing during or before the early stages of pregnancy, don’t hesitate to schedule an appointment online or over the phone at either of our offices today.

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