Are you expecting a baby? Or are you already pregnant and waiting for your new baby to arrive? Then your doctor may have mentioned the words ' Genetic Testing ' to you. Hearing this name, you may have felt a little scared, curious, and a little confused. "Oh my god, what is this test? Do I really need to do this? Will my baby be at risk?" It's normal for many questions to come to mind. So don't be afraid. Today, we'll talk about this very simply, in a way that you can understand.
Who is this genetic testing important to?
Simply put, any woman has the opportunity to undergo these tests during or before pregnancy. Sometimes the baby's father is also referred for this test. We will discuss the reason for this later.
Typically, your doctor will definitely talk about this test in the following situations:
- Family history: If someone in your family, or the baby's father's family, has a genetic condition (for example, thalassemia, sickle cell anemia), these tests can help determine whether your baby could also inherit that genetic condition.
- Age: Generally, if the mother is over 35 years old, the risk of certain genetic conditions (especially Down syndrome) increases slightly. Therefore, doctors recommend these tests in such cases.
- Ethnic Background: There are some genetic diseases that are specific to different ethnic groups in the world. For example, people of Eastern European or Ashkenazi Jewish background are at higher risk of conditions called Tay-Sachs and Canavan . People of African descent are at higher risk of sickle cell disease. White people are at higher risk of cystic fibrosis . While these are examples from around the world, it is important to talk to your doctor about your family background.
What do these tests actually do?
Doctors use different types of genetic tests . These can be divided into two main categories. Let's look at it this way to understand it clearly.
| Test Type | Simply put, what happens with this? |
|---|---|
| Screening Tests | These tests are used to determine the risk of your baby having certain birth defects. Examples include Down syndrome, Trisomy 18, and Trisomy 13. This is like predicting the likelihood of a road accident. |
| Carrier Tests | This tests whether you, or the baby's father, are a carrier of a genetic disease. A 'carrier' means that the person has no symptoms, but the gene that causes the disease is in their body. That gene can be passed on to the child. Examples: Cystic fibrosis, Fragile X syndrome, Sickle cell disease. |
Who is a carrier?
Let's explain this a little more. Imagine that you need two genes to develop a certain disease. One from your mother and one from your father. A carrier means that the person only has one of the genes that cause the disease. Therefore, they do not develop the disease and do not show symptoms. However, if both parents are carriers, the baby will inherit the disease-causing gene from both parents, and there is a chance that the baby will develop the disease. That is why carrier testing is important.
How is this test done? Is there anything to be afraid of?
This is where most people get scared. But it's actually very simple. Usually a nurse will take a blood sample from your arm, or for some tests , a saliva sample . That's it.
This will not cause any harm or risk to you or your unborn baby. This is just like having a regular blood test. So don't be unnecessarily scared about it.
What do the results say?
This is the most important thing that everyone needs to understand.
Genetic screening tests do not tell you 100% for sure whether your baby has a disease. They only tell you whether the risk of developing a disease is high or low. This means that if your result comes back as 'high-risk', it does not mean that your baby will definitely have that disease. It just means that further testing is needed.
If you get a 'high-risk' result, your doctor may suggest some more diagnostic tests. For example:
- Amniocentesis: In this, a very small amount of the amniotic fluid surrounding the baby is taken with a syringe and examined using an ultrasound scan.
- Chorionic Villus Sampling (CVS): In this, a very small piece of tissue is taken from the placenta and examined.
These tests are a little more complicated than the blood test mentioned earlier. They can carry a very small risk. So these are only done to find out exactly what the 'high-risk' is. Your doctor will explain all of this to you thoroughly.
Why is it important to get your father tested too?
As we mentioned earlier, for some diseases to develop, the baby needs to inherit the gene from both the mother and the father. Imagine that you are a carrier of cystic fibrosis. You may be worried. But if the baby's father is tested and he is not a carrier (negative), then the baby's chance of developing the disease is almost completely eliminated. That is why it is sometimes very important to test both parents.
How many times is this test done during pregnancy?
Usually, it is done once. This test is performed at a certain number of weeks during pregnancy.
Take-Home Message
- Genetic testing is a way to find out about your baby's risk of developing a genetic disease, but it does not confirm that the disease exists.
- Most of these are done with a simple blood sample or saliva sample, so there is no risk to you or your baby.
- Don't be alarmed if the test result says 'high-risk'. It doesn't mean you have the disease, but it does mean you need to investigate it further.
- Discuss any questions, concerns, or doubts you have about these tests, their results, and the next steps you should take with your doctor . He or she will explain everything to you.
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