andresr / E+ / Getty images
What Is NIPT?
NIPT analyzes fragments of the babys DNA found circulating in a pregnant persons blood.DNA is usually located within cells.
When cells break down, they release DNA into the bloodstream.
andresr / E+ / Getty images
This DNA is called cell-free DNA (cfDNA).
What Conditions Does NIPT Look For?
NIPT screens for conditions resulting from extra or missing chromosomes (aneuploidy).
Chromosomes are the parts of cells that contain your DNA.
Each cell normally has 23 pairs of chromosomes (46 total chromosomes).
NIPT screens for the three most common chromosomal aneuploidies:
NIPT can also detect sex chromosome disorders.
The first 22 pairs of chromosomes are autosomescommon for both males and females.
The 23rd pair is the sex chromosomes, and they come in two forms: X and Y.
These chromosomes determine your biological sex.
Males have an X and a Y chromosome, while females have two X chromosomes.
Sex chromosome disorders occur when extra or missing X or Y chromosomes are present.
Who Should Get NIPT?
Some laboratories offer additional testing for other conditions.
However, the latest recommendations state that physicians should offer all pregnant patients NIPT, regardless of their risk.
Other factors associated with an increased risk include:
How Is the NIPT Performed?
NIPT requires a simple blood draw.
A healthcare professional will obtain a blood sample from a vein in your arm using a needle.
Blood is collected in a vial and sent to a laboratory to be analyzed.
There is no risk to your baby and only minimal risk to you.
You may experience slight pain or bruising where the needle entered your arm.
NIPT can be performed right up until you deliver.
One of two diagnostic tests may be performed: an amniocentesis or chorionic villus sampling.
Chorionic villus sampling takes a tissue sample of theplacenta.
Unlike NIPT, these tests are considered invasive, and there is a slight chance of miscarriage.
Sometimes, NIPT results will come back as no result reported.
This most commonly takes place if the amount of cell-free DNA from the pregnancy is too low.
NIPT requires a fetal fraction of at least 4% to provide accurate results.
Other factors may impact the ability of NIPT to provide a result.
Your healthcare professional will discuss the next steps with you based on your specific situation.
MedlinePlus.What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?.
American College of Obstetricians and Gynecologists.Screening for fetal chromosomal abnormalities.
MedlinePlus.Prenatal cell-free DNA screening.
2019;19(4):1-166.
Natera.Panorama non-invasive prenatal testing (NIPT).
Roche Diagnostics.Information about redraw requests and inconclusive results with the Harmony prenatal test.
