What you need to know about genetic testing during pregnancy

If you are a mother who is expecting, or if you have already received the good news, the greatest wish in your heart is for a healthy baby. So, during this time, doctors recommend various tests to check the health of the baby. Among them, we are talking about a type of test that may seem a little complicated to many, but is very important. That is genetic testing, or as we say in English, ' Genetic Testing '.

Who should undergo this genetic testing?

Simply put, any woman has the opportunity to undergo these tests before or during pregnancy. Sometimes, the baby's father is also referred for these tests.

There are usually several main reasons why your doctor might suggest this type of test:

• Family History : If someone in your or your partner's family has a genetic disease (for example, thalassemia), the baby may also be at risk.
• Age: Generally, when the mother is over 35 years old, the risk of developing certain genetic conditions (especially Down syndrome) increases slightly.
• Previous pregnancy conditions: If you have had a baby with a genetic problem during a previous pregnancy.
• Results of other tests: If you see any suspicious conditions during another scan or blood test you have had.

Some genetic diseases are more common in certain ethnic groups. For example, Tay-Sachs disease is more common in people of Eastern European descent. Sickle cell disease is more common in people of African descent. Cystic fibrosis is more common in white people. These are just a few examples. The most important thing is to be open and honest with your doctor about your family history and your health.

What are these tests really looking for?

There are two main types of genetic testing. It is very important to understand these.

1. Screening Tests: These are the first tests that are done. These tests do not tell you 100% whether your baby has a certain disease. Instead, they tell you how likely (low or high) your baby is to have a certain genetic disease (e.g. `Down syndrome`, `Trisomy 18`, `Trisomy 13`, ` Neural Tube Defects` ). These are usually done by taking a blood sample from the mother.

2. Carrier Tests: These tests check whether you or the baby's father are a "carrier" of a gene that causes a certain disease. A carrier means that the person has no symptoms, but carries the gene that causes the disease in their body. If both parents are carriers of the same disease, there is a chance that the child will have that disease. These tests are done for diseases such as `Cystic fibrosis`, `Fragile X syndrome`, `Sickle cell disease` and `Tay-Sachs`.

How are these tests done? Is it something to be afraid of?

You don't need to worry about this at all. In both the `screening` and `carrier` tests that we talked about above, a nurse or medical laboratory officer only takes a blood sample from you. Sometimes a saliva sample may also be used. This is just like a regular blood test. These basic tests do not cause any harm or risk to you or your unborn baby.

After the report comes in... things we need to know

This is the most important and confusing part. If your screening test report says "High Risk", don't panic.

Think of it this way, this `screening test` is like the weather report saying that there are dark clouds in the sky and that it is likely to rain. But to know exactly whether it will rain and how much, you need to look further. That's how it is with this.

If you get a "High Risk" result, your doctor will explain what to do next. The next step is usually a diagnostic test . These can tell you more than 99% accurately whether your baby has the genetic condition.

Diagnostic Tests

These are not like the blood tests that were done earlier. These are a little more complicated. There are two main methods:

1. Amniocentesis: A procedure in which a small amount of amniotic fluid is removed from the amniotic sac surrounding the baby in the uterus and tested.

2. Chorionic Villus Sampling (CVS): A procedure in which a very small amount of tissue is taken from a portion of the placenta and examined.

Because both of these tests carry a very small risk of miscarriage, doctors only recommend them if a screening test indicates a high risk.

Why is the father's test also important?

It is very important to test the father in carrier tests. For a child to have some genetic diseases, both the mother and father must be carriers of that disease. Imagine, you have been tested as a carrier of a certain disease. But if the test confirms that the father of the child is not a carrier of that disease, the risk of the child having that disease is almost completely eliminated. Therefore, sometimes a father's test can provide great relief.

Be sure to talk to your doctor about all of this, understand the results, and decide what to do next. He or she can give you the best advice for your situation, rather than searching for information on the internet.

Genetic Testing, Pregnancy, Down Syndrome, Down syndrome, Screening Test, Carrier Test, Amniocentesis, CVS