The NIPS Test (also known as NIPT) is a newer, cutting-edge prenatal screening test that helps doctors identify chromosomal abnormalities in fetuses.
Who’s it For?
It’s for all pregnant women, but especially those 35 & older.
When is the NIPS Test Done?
As early as 10 weeks of pregnancy. The results take about 7-10 days to come back.
What Does the NIPS Test Tell Me?
It tells you your baby’s risk of having Down Syndrome, Edwards Syndrome, and Patau Syndrome, as well as a few diseases caused by abnormal sex chromosomes. As a bonus, the NIPS Test can also tell you the sex of your baby (with more than 99% accuracy).
- Down Syndrome is a condition characterized by intellectual disability (a low IQ) and certain physical features (such as short stature, small ears, almond-shaped eyes that slant upwards, and a protruding tongue). The most common cause of Down Syndrome is an extra copy of chromosome 21. Patients with Down Syndrome have 3 copies of chromosome 21 in their cells (vs. the usual 2 copies).
- Edwards Syndrome is caused by an extra chromosome 18. In this case, patients have 3 copies of chromosome 18 in their cells. This leads to a host of problems, including severe intellectual disability, low birth weight, heart problems, a small, abnormally-shaped head, deformed feet, and clenched fists with overlapping fingers. Sadly, only 5-10% of babies with Edwards Syndrome live past their first year of life.1
Reality Check: Though serious, Edwards Syndrome, is extremely rare.
- Patau Syndrome is another type of “Trisomy” (in which an extra chromosome is present). Babies with Patau Syndrome have 3 copies of chromosome 13 in their cells. Patau Syndrome (aka Trisomy 13) causes severe intellectual disability, heart defects, brain and spine abnormalities, deafness, and extra fingers or toes. As with Edwards Syndrome, only 5-10% of babies with Patau Syndrome live past 1 year of age.2
Reality Check: Like Edwards Syndrome, Patau Syndrome is rare.
How Does the NIPS Test Work?
The NIPS test analyzes small fragments of “placental” DNA that can be found circulating in Mom-to-be’s blood. This placental DNA is nearly identical to the fetus’s DNA and, as a result, almost always reflects the genetic makeup of the fetus. To perform the test, the doctor draws a sample of the expectant Mom’s blood and sends it off to a specialty lab to be evaluated.
The Pros & Cons of NIPS Testing:
Pros of the NIPS Test:
- Although NIPS is a screening test (not a confirmatory test) it’s pretty darn accurate. For example, it detects 99% of Down Syndrome cases and more than 91% of Edwards Syndrome & Patau Syndrome cases.3 It also has a low rate of false positives (in which the test is wrongly positive). On the whole, the NIPS test is more accurate than the first trimester screen (another popular prenatal screening test).
- In addition, NIPS is a fairly simple and non-invasive test.
- And, as mentioned above, the NIPS test can also tell you the sex of your baby.
Insider Info: The NIPS test is one way women find out their baby’s sex before the big ultrasound at 18-22 weeks of pregnancy.
Cons of the NIPS Test:
- It’s more expensive than the First and Second Trimester Screening Tests (think: $800 a pop). To make matters worse, it’s not always covered by insurance.
- The NIPS test is just a screening test. If it’s positive, you still have to undergo further testing (such as chorionic villus sampling or a genetic amniocentesis) to get a definitive diagnosis.
- NIPS testing isn’t offered everywhere.
- The NIPS test does not screen for neural tube defects (defects of the brain, spine, and/or spinal cord), nor does it screen for abdominal wall defects (abnormal openings in the fetus’s abdomen through which the digestive organs may protrude).
A Silver Lining: Abdominal wall defects are usually picked up on the standard prenatal ultrasound (the “growth” scan) between 18-22 weeks and you can get a separate test (the alpha-fetoprotein test) to see if your baby is at risk for neural tube defects. The alpha-fetoprotein test is a blood test, as well, so it’s easy to tack onto the NIPS testing.
The Bottom Line
NIPS is an exciting and fairly new prenatal genetic screening test. It’s accurate and non-invasive, but it can come with a hefty price tag if it’s not covered by your insurance. Ask your doctors about the pros and cons of getting this test based on your age & family history.
A Parting Word
NIPS isn’t the only prenatal screening test in town. Get Wise about the First and Second Trimester Screening Tests, as well.
