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NIPT is a blood test that's available to all pregnant women beginning at 10 weeks of pregnancy. It screens for Down syndrome and a few other chromosomal conditions, and it can tell you whether you're having a boy or a girl. NIPT results must be confirmed by a diagnostic test such as CVS or amniocentesis.
What is NIPT?
NIPT (noninvasive prenatal testing) is a blood test used to screen for Down syndrome and a few other chromosomal conditions. You can have NIPT at 10 weeks of pregnancy or later. Results are usually available in a week or two, sometimes a little sooner.
The test is also known as cell-free DNA screening (cfDNA). Or you may have heard it called MaterniT21, a brand name.
Is NIPT conclusive?
No, NIPT is a screening test, not a diagnostic test. That means the results don't indicate for sure whether your baby has a chromosomal condition. So a "normal" NIPT result does not guarantee a healthy baby, and an "abnormal" result does not mean your baby definitely has a certain condition. That said, NIPT has the best overall detection rate of all screening tests at 99 percent.
Currently CVS and amniocentesis are the only two tests used to diagnose Down syndrome and other chromosomal conditions, so if NIPT indicates a possible problem, experts recommend having CVS or amniocentesis for a definitive diagnosis.
How does NIPT work?
You have a blood sample taken and sent to a lab for analysis. The test counts fragments of DNA (called cell-free DNA) from your placenta that's circulating in your blood.
By examining the chromosomes (the part of your cells that contain your genes), doctors can tell if your baby is more likely to have certain disorders. Normally there are 23 pairs of chromosomes in each cell. If one of the pairs has an extra chromosome, it's called a trisomy. Down syndrome is also called trisomy 21 because there's an extra copy of chromosome 21.
Will this blood test reveal my baby's gender?
Yes. With all this examining of chromosomes, NIPT can also tell you what sex your baby is. Make it clear to your practitioner whether or not you want this information revealed to you.
What does NIPT screen for?
The major conditions NIPT screens for are:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
- Common sex chromosome conditions, such as Klinefelter syndrome and Turner syndrome
Some labs may screen for a few other conditions as well, if you choose.
The test can also test for Rh blood type.
What does NIPT not screen for?
Conditions not screened for include:
- Neural tube defects
- Heart defects
- Abdominal wall defects
- Many other chromosomal and genetic disorders
NIPT only screens for a few chromosomal conditions. CVS and amnio, on the other hand, can diagnose almost ALL chromosomal abnormalities. They can also be used to check for any of several hundred genetic disorders, such as cystic fibrosis, if you ask for these extra tests.
Who can have NIPT?
NIPT is available to all pregnant women, and some healthcare providers recommend it to all of their patients.
Others consider it most appropriate for women who are at higher risk for having a baby with chromosomal abnormalities. These include women who have already had a baby with a chromosomal abnormality and those who will be age 35 or older when their baby is born.
Some women choose not to have NIPT because their insurance doesn't cover it or doesn't cover it completely.
NIPT isn't considered as accurate for women carrying multiples. While it's accurate if negative, if there's a positive test there's no way to tell which baby is affected unless an abnormality shows up on an ultrasound.
How much does NIPT cost?
If you're paying out of pocket, the cost varies widely. Most insurance plans cover at least a portion of the fee.