There are various tests during pregnancy that can be done to detect the condition of the fetus, one of which is the NIPT test.
Non-invasive prenatal testing (NIPT) is a test that can be done to detect chromosomal abnormalities during pregnancy.
Did you know that pieces of your baby’s DNA are floating around in your bloodstream? Well, this noninvasive prenatal test (NIPT) involves a simple blood screening that uses that DNA (called cell-free DNA, or cfDNA) to analyze your baby’s risk for a number of genetic disorders, including Down syndrome .
To learn more about the NIPT test, here’s what parents need to know to ensure that you really need this screening.
What is NIPT Test?
NIPT test or non-invasive prenatal test is used to analyze genetic information contained in DNA to detect a number of abnormalities. This test can be very sensitive to indications of Down Syndrome (DS).
The What to Expect page explains that NIPT is a prenatal screening that looks for DNA from your baby’s placenta in a sample of your blood to identify whether you are at high risk of having a child with a genetic disorder.
However, screening such as NIPT cannot determine with certainty whether your baby actually has a chromosomal abnormality 100% or not, only the possibility of having the condition.
However, it seems that not only DS, a number of other chromosomal abnormalities can also be detected, such as:
- Edwards syndrome (trisomy 18)
- Detecting Patau Syndrome (trisomy 13)
- Turner Syndrome
This test is a blood sampling and testing that can be done from 10 weeks of pregnancy. In Indonesia itself, there are already several hospitals that have this facility.
The results of the NIPT screening can help you and your doctor decide what to do next, including whether to undergo diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis. These genetic tests analyze your baby’s own genetic material, collected from amniotic fluid or the placenta, to find out with 100 percent certainty whether your baby has a chromosomal abnormality.
It is normal for a mother to feel worried about the condition of the fetus in her womb. Don’t worry, Mom. Now you can check the condition of the fetus through the NIPT test.
As for the cost of the NIPT test itself, in Indonesia it is priced at around IDR 5 million per year in 2022.
How is the NIPT Test Performed?
So, how is this NIPT done? Is this test dangerous for pregnant women or fetuses?
What to Expect explains that because NIPT only involves a quick blood draw with a needle, it is safe for you and your baby.
All you need to do is have a blood sample drawn from your arm, which can be done by a doctor or a lab technician. Your sample is then sent to a lab, where a technician will look at the DNA in your blood for signs of abnormalities.
Once your NIPT results come back, your doctor will likely match them with your first trimester ultrasound or screening results.nuchal translucencyYou to determine if further testing is necessary.
Depending on the results, your doctor may recommend following up with an amniocentesis or CVS to confirm the results and check for other problems that NIPT could not detect.
Difference between NIPT Test and Fetomaternal
The NIPT procedure is different from the fetomaternal performed in the hospital. Fetomaternal is performed invasively, namely by taking a sample of amniotic fluid , a small amount of placenta, or blood from the fetus’ umbilical cord.
This method is risky for pregnancy and can cause miscarriage. The accuracy of the results is also 5 percent inaccurate. Very different from non-invasive examinations on NIPT which have much higher accuracy.
Purpose of NIPT Test
The purpose of NIPT is to screen and determine the condition of the fetus, whether it is at risk of Down syndrome (also called trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome, or whether it is normal.
Another goal is to find out the sex of the fetus. Some labs also test the baby’s sex and look for problems with the sex chromosomes, as quoted by Pregnancy Birth Baby.
This test can also reveal whether your baby is Rh positive or negative and help your practitioner determine whether you need RhoGAM injections during pregnancy.
This test detects many chromosomal abnormalities, but it is not as complete a diagnostic test as amniocentesis. The only way to know for sure if your baby has Down syndrome is to have a diagnostic test such as chorionic villus sampling (CVS) or amniocentesis.
When is NIPT Test Performed in Pregnancy?
The NIPT test can be done at any time after 9 weeks of pregnancy, or earlier than a prenatal check-up or other diagnostic test.
By comparison, nuchal translucency screening is performed between weeks 11 and 13; CVS is performed at 10 to 13 weeks; quad screen is completed between weeks 14 and 22; and amniocentesis is usually performed between weeks 16 and 18, although it is sometimes performed as early as weeks 13 or 14 and as late as weeks 23 or 24.
Understanding NIPT Test Results
What to expect from your NIPT results? Pregnancy Birth Baby explains it can take up to 2 weeks to get your NIPT results.
If the result is ‘negative’, ‘normal’ or ‘low risk’, then your baby is unlikely to have the chromosomal abnormality being tested for.
If the result is ‘positive’, ‘abnormal’ or ‘high risk’, this means your baby is likely to be affected.
If you have an abnormal NIPT result, diagnostic tests such as CVS or amniocentesis can confirm the result more precisely. You should discuss your options with your doctor, midwife or genetic counselor.
How Accurate is the NIPT Test?
So how accurate is NIPT? Studies show that NIPT has between 97 and 99 percent accuracy in predicting the risk of Down syndrome, Edwards syndrome, or Patau syndrome.
What to Expect also writes that the test is less accurate in predicting rarer genetic conditions such as DiGeorge syndrome, 1p36 deletion, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, Turner syndrome and Prader-Willi syndrome.
Several studies have found that cfDNA tests for Turner syndrome are 74 percent false positive.
That’s why if you receive a positive result from NIPT, you should talk to your practitioner about having a more definitive diagnostic test done, such as CVS or amniocentesis.
Who is Recommended to Undergo the NIPT Test?
Every pregnant woman who wants to do this detection is allowed, but there are several conditions in which pregnant women are advised to do this test, including:
- Pregnant women who have a higher risk of experiencing chromosomal abnormalities due to their older age when they become pregnant.
- There is a family history of chromosomal abnormalities.
- The first screening test shows you are at higher risk of having a Down Syndrome baby.
In this regard, What to Expect explains that in the past, NIPT was only recommended for pregnant women who were at high risk of having a baby with a chromosomal abnormality – such as those who were 35 years or older, had previously had a child with a genetic disorder or had a family history of the condition, or if there were concerns about the results of other prenatal tests.
Now, doctors are recommended to discuss all screening options with all pregnant women (regardless of age or risk) to find out what the potential risks are for the mother.
It is better to know as much as possible about the risks that will occur in the future as soon as possible.
Learning about potential conditions early on allows you to prepare for a special needs baby and make plans to deliver in a facility that can promptly meet the health needs of you and your baby.
3 Artists Who Take the NIPT Test
1. Aura of Love
photo doc: IG @aurakasih
In her first pregnancy, Aura Kasih was seen undergoing an NIPT test at home, accompanied by her husband.
“Like other prospective mothers, I also feel worried about the health of my pregnancy. Fortunately, technology is now increasingly advanced, so I chose to have an early detection test for chromosomal abnormalities in my fetus.
This test can detect chromosomal abnormalities such as Down Syndrome with up to 99% accuracy! I think it is very important for prospective mothers, because there are many types of chromosomal abnormalities that may not be detected in regular pregnancy check-ups.”said Aura Kasih in an excerptcaption-his.
2. Tya Ariestya
photo doc: IG @tya_ariestya
Having done it when she was pregnant with her first child, now Tya Ariestya is doing another NIPT test. In her second pregnancy, Tya is also able to determine the sex of her second child.
“ Hey you baby in my belly. #27weekspregnant weighing 1.2 kg, heavy & large size more than 1 week. AAlhamdulillah, healthy in the womb. Mom is also healthy and happy here. Get ready to meet Big Sister Kanaka, and Dad who will definitely love you very much. We await your presence when the time comes for you to be born into the world.
No need to rush, dear. Enjoy it inside your belly, enjoy the food that you eat, grow perfectly inside my belly, my dear.
Thank God, I’ve taken the NIPT test. God willing, the baby will be 99% male (based on the chromosomes) and God willing, will be safe from the feared chromosomal abnormalities. Bismillah, God willing, the best.”said Tya in her post.
3. Tasya Kamila
photo doc: IG @tasyakamila
Having her first experience as a pregnant mother, Tasya Kamila decided to undergo the NIPT test. The wife of Randi Bachtiar also already knows the sex of her baby because of this test.
“Some time ago I did a check-up that I think is important for pregnant women, namely Prosafe NIPT (Non Invasive Prenatal Test). This is the safest test to detect chromosomal abnormalities in the fetus, such as Down Syndrome. This examination can be done from 10 weeks of pregnancy, and can also show the baby’s gender!”wrote Tasya Kamila in a post on her Instagram account.
These are the things that are bestParentsknow about NIPT test. Hopefully, with non-invasive prenatal test or NIPT, parents can find out more quickly about the health condition of their baby in the womb. Then prepare themselves to face the situation after the baby is born later, both physically, psychologically and financially. So, are you also interested in doing this type of test? Or have you already done it?
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Republished with permission from theAsianParent Indonesia
