Written by Options RN, Louise Hall
February 15, 2024
What is prenatal testing?
Prenatal testing refers to a number of medical tests that occur when a baby is still in the womb. The goal of prenatal testing is to determine if a birth defect, chromosomal abnormality, or disability is present. Some tests look at DNA, while others look at physical signs using something like an ultrasound. Prenatal testing comes in two types: screening tests and diagnostic tests. Screening tests are designed to determine the level of risk that your baby could have an abnormality. A diagnostic test can confirm that an abnormality is actually present.
How does NIPT work?
NIPT stands for “non-invasive prenatal testing.” It is sometimes called NIPS (non-invasive prenatal screening) or Cell-Free DNA screening. NIPT requires a blood draw, which can be taken anytime during or after 10 weeks gestation, but it is most commonly done at the end of the first trimester or beginning of the second trimester, after the first-trimester ultrasound has been done. The DNA in the blood sample is then examined to look for DNA abnormalities in the baby. Results from the NIPT test are usually given after about 1 week.
What does NIPT show?
One of the things NIPT can show is what the baby’s sex is, well before it can be determined by ultrasound! This can be very appealing to parents. NIPT also looks for chromosomal abnormalities, such as Down Syndrome, trisomy 13, trisomy 18, and a number of sex chromosome abnormalities. Not all NIPT tests look for the same things. Most look for the ones listed above, but some look for other, less common genetic abnormalities as well. It all depends on the brand of test your OB uses. Your doctor can let you know what things your test will be looking for.
What if NIPT comes back with something abnormal? Then what?
If NIPT shows an abnormality, this is an indication that some sort of genetic anomaly might be present, but it doesn’t guarantee it. NIPT looks at the likelihood of a defect being present, not the presence of a defect in and of itself. While NIPT gives more accurate results than the Quad Screen (completed between weeks 14 and 22), it still isn’t 100% accurate. The more rare the abnormality examined by the test, the higher the chance that it could be a false positive. If a NIPT report shows an abnormality, your doctor will talk with you about next steps, likely starting by following up with a diagnostic test, such as amniocentesis.
What are the risks of NIPT?
NIPT doesn’t pose any significant physical risks to you or your baby’s health. Since the test is performed from a simple blood draw, the physical risks associated with it are the same as for any other blood draw you might get at the hospital. There is a risk for emotional or mental anxiety, in that an adverse finding could cause anxiety for you and/or your partner as you decide what you want to do next. Screening tests like NIPT are optional, so if you decide you don’t want to have it done, that is totally fine! You should talk with your doctor about all the risks and benefits to NIPT beforehand to be sure you can make a fully informed decision.
What should I do if I receive an adverse diagnosis?
If you receive an unexpected diagnosis for your unborn baby, you should take some time, even a few days, to process the information. If you feel pressured to make decisions about next-steps quickly, it’s okay to say that you need some time to think about it first. A maternal-fetal medicine specialist will likely work with you moving forward. You may also be connected with a counselor who can meet with you in an official capacity. If you need to talk through the situation, you can reach out to trusted friends or family members, or you can reach out to the staff at Options. We are here to listen to you and connect you to any resources that you may need!
References & Further Information:
https://my.clevelandclinic.org/health/diagnostics/21050-nipt-test
https://medlineplus.gov/genetics/understanding/testing/nipt/
https://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-testing/art-20045177
https://www.whattoexpect.com/pregnancy/pregnancy-health/noninvasive-prenatal-testing/
https://www.marchofdimes.org/find-support/topics/planning-baby/prenatal-tests
https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests