Since you are now expecting to become a mother, you must be thinking a lot about the health of yourself and your little one in your womb, right? So today we are going to talk about a special test that can be done during pregnancy. This is called NIPT (Noninvasive Prenatal Testing). This allows you to learn some important information about the health of your baby without any harm to either you or the baby.
What is NIPT (Noninvasive Prenatal Testing)?
Simply put, NIPT is a test that is done during your pregnancy to see if your unborn baby has certain chromosomal disorders . For example, it checks for a risk of conditions like Down syndrome ( Trisomy 21) , Trisomy 18 ( Edwards syndrome) , and Trisomy 13 (Patau syndrome) . It can also tell you the sex of your baby.
This is done with a blood sample taken from you. Don't be surprised, your blood contains a very small amount of your baby's DNA (Deoxyribonucleic Acid) . DNA is what our genes and chromosomes are made of. It's like the blueprint of our body. So it's by testing these DNA fragments that doctors can get some idea of the baby's genetic information. This blood sample is sent to a lab for testing. But remember, NIPT cannot identify every chromosome or genetic condition.
This NIPT test is called by other names. Some call it cell-free DNA screening or cfDNA screening . Others call it non-invasive prenatal screening or NIPS . Don't be alarmed if you hear these names, they're all the same test.
It is very important to note that this is a screening test , not a diagnostic test . This means that it only tells you how likely or unlikely your child is to have a condition. It cannot say for sure, 'Yes, your child has this condition' or 'No, your child does not have this condition.'
Whether or not you choose to have the NIPT test is entirely your decision. Your doctor will provide you with information about this and help you make the best decision for you.
What exactly does the NIPT test look for?
As we mentioned earlier, NIPT cannot detect all chromosomal conditions or birth disorders. In most cases, NIPT tests look for:
- Down syndrome (Trisomy 21)
- Trisomy 18
- Trisomy 13
- Abnormalities related to sex chromosomes (X and Y)
Down syndrome, trisomy 18, and trisomy 13 are caused by an extra chromosome. Sex chromosome testing can determine the sex of the baby and can also check for any changes in the normal number of sex chromosomes. Common sex chromosome conditions include Turner syndrome , Klinefelter syndrome , Triple X syndrome, and XYY syndrome . Keep in mind, however, that not all NIPT tests detect all of these conditions. It is therefore important to talk to your doctor about what your NIPT test will look for.
Why is this NIPT test done? Who is it best for?
NIPT helps determine the risk of a baby being born with a chromosomal abnormality. Doctors may recommend this test in the following situations:
- If you already have a child with a chromosomal abnormality.
- If an ultrasound scan you had showed that the baby may have some abnormality.
- If you have had a previous screening test that indicated there may be a problem.
The American College of Obstetricians and Gynecologists (ACOG) used to recommend NIPT only if you had a high-risk pregnancy . That means, maybe, if you're over 35, or if someone in your family has had one of these conditions. But now they're saying that all pregnant women, regardless of risk, should be informed about NIPT and given the opportunity to have it.
Depending on the results of the NIPT test, your obstetrician may recommend diagnostic tests . As we said before, a screening test only tells you the probability. A diagnostic test is the one that can give a definitive 'yes' or 'no' answer to whether your baby has a condition.
When should the NIPT test be done during pregnancy?
The NIPT test is usually done after 10 weeks of pregnancy, but can be done at any time up until the baby is born . Most often, it is not done before 10 weeks. This is because there may not be enough fetal DNA in the mother's blood before that time to perform the test accurately.
How accurate are NIPT tests?
This is a question that many people ask. The accuracy of the test depends on what condition is being tested. Also, things like if you are expecting twins, if you are carrying a baby for someone else (surrogate pregnancy), or if you are obese can affect NIPT results.
NIPT is generally about 99% accurate in detecting Down syndrome. It may be slightly less accurate in detecting trisomies 18 and 13. Overall, NIPT has fewer false positives than other prenatal screening tests, such as the quad screen. This means that the test is less likely to give a false positive when the baby is not affected.
Can the NIPT test determine the sex of the baby?
Yes, the NIPT test can predict the sex of the fetus. Many parents are eager to know this, right?
Is it necessary to have an NIPT test during pregnancy?
No, this is not mandatory. This is entirely a personal decision. It is normal to have questions about this. Your doctor will tell you all about the other prenatal screening options, including NIPT. Many factors can affect the decision to have NIPT. If you are having trouble making a decision, or if you would like to discuss this screening in more detail, a genetic counselor can explain these prenatal testing options to you and help you choose the one that is best for you.
How do doctors perform this NIPT test?
This is very simple. All your doctor does is take a blood sample from a vein in your arm . This blood sample is sent to a lab to check for any abnormalities in the baby's DNA.
We all have DNA inside our cells. These cells are constantly dividing and making new cells. When cells break down, small pieces of DNA (DNA fragments) end up in our blood. When you are pregnant, a very small amount of your baby's DNA circulates in your blood. This is called cell-free DNA, or cfDNA . The NIPT test looks for pieces of your baby's DNA in your blood.
It's important to remember that it takes about 10 weeks for enough of the baby's DNA to accumulate in your blood. That's why this test isn't done until 10 weeks into the pregnancy.
Are there any risks with the NIPT test?
NIPT tests are very safe. There is no risk to the baby. Because it only requires taking a small amount of blood from the pregnant mother. So there is nothing to worry about.
When will I receive my test results?
It can sometimes take up to two weeks to get the results of the NIPT test. However, there are cases where the results are available earlier. Your doctor will receive the results first. He or she will then inform you of the results.
What do the NIPT test results say?
Because NIPT is a screening test, it does not give a 'yes' or 'no' answer to whether your baby has a condition. The results show whether your baby is at increased or decreased risk of developing the condition. Your test results can sometimes be a little difficult to understand. So if you are not sure, ask your doctor for clarification.
Many labs give different results for each condition they test for. For example, you may get a positive (high risk) result for Trisomy 13, but a negative (low risk) result for Down syndrome.
Also, sometimes there may be no results because there is not enough of the baby's DNA in your blood, or the baby's DNA cannot be identified properly. In that case, you can have the NIPT test repeated. In such cases, your doctor can give you the best guidance.
What if the results are positive/high risk?
If the NIPT test shows that your baby is at risk of having a chromosomal abnormality, your doctor may recommend diagnostic testing . These tests can definitively say 'yes' or 'no' whether a condition is present. These tests include:
- Amniocentesis: This involves removing a small amount of amniotic fluid from your uterus. This test can be done after 15 weeks of pregnancy.
- Chorionic Villus Sampling (CVS): This test takes a sample of cells from the placenta. This cell sample is sent to a lab for testing. This can be done between 10 and 13 weeks of pregnancy.
It is very important to talk thoroughly with your doctor about your NIPT results and get all the information you need about what to do next.
Can the NIPT test be wrong for Down syndrome?
Because NIPT is a screening test, it is not 100% accurate. That's why we say it only indicates risk. So it's important to talk to your doctor to learn more about your results and your next options.
Is it worth getting the NIPT test?
It is up to you to decide whether to have a prenatal screening test like NIPT or another genetic test. Your doctor can answer any questions you may have. But ultimately, it is up to you to decide how a genetic or chromosomal abnormality will affect you and your family, based on your specific situation.
These questions will help you make a decision:
- How will I feel if a screening result is positive?
- Would I be willing to undergo diagnostic tests like amniocentesis or CVS?
- If I found out that my child has a genetic condition, or is at increased risk for a genetic condition, would I make any changes?
- Will knowing this information make me sad or anxious, or will it help me prepare for caring for the baby?
- Will knowing this information help my doctors take better care of my child?
How much does the NIPT test cost?
The cost of NIPT testing can vary. Most health insurance policies cover most (or even all) of the cost. Some cover at least some of it. So it's a good idea to check with your insurance company before getting the test. If you don't have insurance, or your insurance doesn't cover NIPT testing, you can pay for it yourself.
Can NIPT be done at 14 weeks?
Yes, NIPT can be done at any time after 10 weeks of pregnancy. That means there is no problem even at 14 weeks.
What should I ask my doctor about the NIPT test?
Having a test like NIPT is a personal decision. You may have questions about what your results mean, or whether you should have the NIPT test. Don't be afraid to ask questions. Remember, only you can decide what's best for you and your family.
Here are some common questions you can ask your doctor:
- If you were me, would you get the NIPT test?
- If my screening test is positive, what are the next steps?
- Is there a genetic counselor available to talk about my options?
- What is the probability of false positives?
Take home message
Okay, so the NIPT test is a very reliable prenatal screening method that assesses the risk of chromosomal disorders in the unborn baby. This test can also provide information about the sex of the baby. The NIPT test does not diagnose a disease – it only indicates that the baby is more likely to have a certain condition. After the NIPT results are received, diagnostic testing may be recommended. Prenatal tests like NIPT are not mandatory, and whether or not to have them is entirely your decision. Talk to your doctor or a genetic counselor about what you are thinking. It is important to understand exactly what the test is looking for and what the results mean, and to make an informed decision. I wish you and your baby all the best!
` NIPT, Noninvasive Prenatal Testing, prenatal testing, Down syndrome, chromosomal abnormalities, pregnancy, cfDNA, baby's health
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