The non-invasive prenatal test (NIPT) is a test that screens for Down syndrome and other abnormalities in a baby. some of the baby’s DNA passes into the mother’s bloodstream during pregnancy. NIPT thus helps to analyse the genetic information that is contained in this DNA to look out for abnormalities, if any. The test can be done from 10 weeks into the pregnancy.
The test is considered to be non-invasive as it requires drawing blood from the pregnant woman. Thus, in any case it does not pose any risk to the fetus. The test will only help to estimate whether the risk of certain condition is increased or decreased.
In this article:
What to Expect from the Results?
How Often is the Test Done During your Pregnancy?
All You Need to Know about Noninvasive Prenantal Testing (NIPT)
What Does it Test for?
The test helps to screen for a number of conditions, some of which are listed below:
- Down syndrome (trisomy 21)
- Patau syndrome (trisomy 13)
- Edwards syndrome (trisomy 18)
- Turner syndrome
Although the test can detect a number of chromosomal abnormalities but not as many as compared to diagnostic tests like amniocentesis. Screening for cystic fibrosis, sickle cell anaemia or thalassaemia cannot be done with this test.
Why NIPT?
NIPT picks up more than 99% cases of Down syndrome. but as we have discussed earlier, the test is a screening test and not a diagnostic one, so the test can only help one know if there is an increased risk of having a baby with an abnormality, which means it doesn’t provide you with a definite answer.
NIPT test may be conducted if,
- The combined first trimester screening test depicts that you are at an increased risk of having a baby with down syndrome.
- Before opting for a diagnostic test, you want to be sure that there is an increased risk as that carries a little risk of miscarriage.
- You did not have the combined first trimester screening test
- You are at an increased risk (for instance, if you earlier had a baby with down syndrome or other chromosomal condition)
How is the Test Done?
NIPT is considered to be completely safe for you and your baby. The test involves only a quick blood draw with a needle and syringe. So, basically, you just have to offer up your arm at the doctor’s lab, after which the sample will be sent to a lab. The technician will then look at the cfDNA in your blood to look out for signs of abnormalities.
After getting the results, your doctor will pair them with the results of your first-trimester ultrasound or nuchal translucency screening that will help to determine if any further testing is needed or not.
What to Expect from the Results?
Getting the results for your NIPT can take up to 2 weeks. Your baby is not likely to have any of the chromosomal disorders tested, if the result is negative, normal or ‘low risk’. However, your baby is likely to be affected if the result is positive, abnormal or high risk.
What are the Kinds of NIPTs?
There are currently four companies that offer non-invasive prenatal testing: Genesis Serenity, Harmony, Natera and MaterniT21. Each company offers different panels screening for various genetic disorders, while some screen for abnormalities including triploid and microdeletion. Also, you must ask your practitioner about the kind of test they use because some brands differentiate between maternal and fetal cfDNA and others do not.
How Much Does the Test Cost?
Well, the cost majorly depends on the type of it and the place where it is analysed. The test is likely to cost you more if it is sent overseas. Not only this, but you may also need to pay for an appointment with your doctor at the first place and then, for the ultrasound. Considering Australia, the costs have however come a little down as the results can now be analysed locally. So, you may expect to pay somewhere between $400 and $1000 for an NIPT.
How Often is the Test Done During your Pregnancy?
Although the test is available any time after 9 weeks depending on the lab, so it is done once between 10 to 22 weeks on pregnancy. it can be undertaken by any woman but is also covered by insurance for those 35 years of age or above and those at high risk for genetic abnormalities.
Conclusion
Make sure that you do consult with your insurance company to find out if it’s fully covered or not and what exactly the test will cost you. Apart from that, there is nothing to be afraid in getting the test done.
References
https://ghr.nlm.nih.gov/primer/testing/nipt
https://bmjopen.bmj.com/content/6/1/e010002
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