If you are a mother who is about to have a baby, your doctor may have told you about various tests. Among them, you may have heard about the test called 'NIPT'. Many mothers feel a little scared when they hear this name. Questions like 'What is this?', 'Will this harm the baby?' come to mind. So today, let's find simple answers to all the questions you have about this NIPT test.
What is this NIPT test?
Simply put, NIPT is a screening test that checks for the risk of a chromosomal disorder in the fetus during pregnancy. It is very simple. It is done just like a regular blood test, by taking a blood sample from the mother's arm.
Imagine, when you're pregnant, your blood contains small fragments of your baby's DNA along with your own DNA. We call this ``cell-free DNA (cfDNA)''. So what the NIPT test does is examine these fragments of your baby's DNA in your blood sample and get some idea of the baby's genetic information.
The most important thing is that this is just a test. That means it only tells you whether you are at risk for a certain condition. It is not a diagnosis . It can also tell you the sex of the baby (boy or girl).
What does the NIPT test look for?
This test cannot detect every genetic disease, but it can help determine the risk of several common chromosomal abnormalities.
| Condition Screened | A Simple Explanation |
|---|---|
| Down syndrome (Down syndrome - trisomy 21) | A condition caused by the presence of an extra copy (three) of chromosome 21 instead of two. |
| Edwards syndrome (Edwards syndrome - trisomy 18) | A condition caused by the presence of three chromosomes instead of two, 18. |
| Patau syndrome (trisomy 13) | A condition caused by the presence of three chromosomes instead of two, 13. |
| Sex chromosome disorders | Variations in the normal number of X and Y chromosomes. Examples: Turner syndrome, Klinefelter syndrome. |
Not all NIPT tests look at all of these, so it's important to talk to your doctor to find out exactly what your NIPT will look for.
Why is this NIPT test done? Who is it best for?
The main purpose of this test is to determine in advance whether the unborn child is at risk of a certain genetic disease. Previously, this test was only recommended for pregnant mothers at high risk. That is:
- A mother who has previously had a child with a chromosomal abnormality.
- If any abnormality is seen in the baby during a scan.
- If another previous test has shown any risk.
However, the latest recommendation is that any pregnant woman who wants to have this test should be given the opportunity to do so, regardless of the risk. This is completely at your discretion.
What is the best time to take this test?
NIPT can be done at any time after 10 weeks of pregnancy . It can usually be done right up until delivery.
The reason for this is that there is not enough fetal DNA in your blood before 10 weeks. Therefore, it is difficult to get an accurate result if you do this before 10 weeks.
How accurate and safe is the NIPT test?
Accuracy
The accuracy of this is very high. It is especially accurate in detecting Down syndrome, with an accuracy of almost 99% . For other conditions, the accuracy may be slightly lower. However, when compared to other prenatal tests (e.g. quad screen), the chance of false positives from the NIPT test is very low.
Safety
This is the biggest problem that many mothers have.
This test does not pose any risk to the baby. It is 100% safe. Because it is done only with the mother's blood. It does not affect the baby in any way.
What do the results say?
It usually takes about two weeks to get the results. When you get the results, they will say something like this:
- Low Risk / Negative: This means that your baby has a very low chance of developing the conditions tested for.
- High Risk / Positive: This means that your baby may have a certain chance of developing one or more of the conditions tested.
A "High Risk" result does not mean that the baby definitely has the disease. It just means that there is a risk and that further testing is needed to confirm whether the disease is present or not.
If the risk is high, what do you do next?
If so, your doctor will recommend diagnostic tests that will give you a definitive "yes" or "no" answer.
- Amniocentesis: A test that takes a small amount of the fluid (amniotic fluid) that surrounds the baby. This can usually be done after 15 weeks.
- Chorionic Villus Sampling (CVS): A test that takes a very small sample of cells from the baby's placenta. This is usually done between 10 and 13 weeks.
Your doctor will tell you more about these tests.
How do you decide whether to take this test or not?
There is no obligation to have this test. This is a completely personal decision for you and your family. To help you make that decision, ask yourself these questions:
- How would I feel if a test like this came back with a "risk" result?
- If so, would I be willing to have a confirmatory test like `Amniocentesis` or `CVS`?
- If I find out early that my baby has a genetic condition, will it affect my decisions?
- Will knowing this information make me feel sad or anxious? Or will it help me prepare mentally and physically to care for the baby?
- Will knowing these things in advance help doctors take good care of the baby after delivery?
With the answers you give to these questions, talk openly with your doctor and make the best decision.
Take-Home Message
- NIPT is a very safe test that is performed on the pregnant mother's blood and does not harm the baby.
- This is about the risk of genetic conditions like Down syndrome. It is not a final diagnosis.
- This test can be done at any time after 10 weeks of pregnancy.
- Don't worry if the result says "High Risk." It means that more tests are needed to confirm the disease.
- Whether or not you choose to have this test is entirely your personal decision. Discuss any questions or concerns you may have with your doctor.
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