Table of ContentsView AllTable of ContentsWhat It IsConditions Screened ForWho Should Get NIPT?How It’s DoneInterpreting Results
Table of ContentsView All
View All
Table of Contents
What It Is
Conditions Screened For
Who Should Get NIPT?
How It’s Done
Interpreting Results
Noninvasive prenatal testing (NIPT) is a screening test that can be performed early in your pregnancy. Here’s what you should know about what this test looks for, how it’s done, and how to interpret the results.
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What Is NIPT?
What Conditions Does NIPT Look For?
Chromosomal abnormalities occur in approximately one in 150 live births, with the rate earlier in pregnancy being greater and often resulting in pregnancy loss.
NIPT screens for the three most common chromosomal aneuploidies:
NIPT can also detect sex chromosome disorders. The first 22 pairs of chromosomes are autosomes—common 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.
NIPT tests for the following sex chromosome disorders:
Some laboratories offer additional testing for other conditions. Talk with your healthcare professional to determine which company they use for their NIPT and which specific conditions will be included in your results.
The American College of Obstetricians and Gynecologists previously recommended NIPT only for pregnant people who were considered of high risk based on their age, personal or medical history, or family history. However, the latest recommendations state that physicians should offer all pregnant patients NIPT, regardless of their risk.
While the risk of chromosomal abnormalities increases with a pregnant person’s age, these disorders can occur at any age. 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.
NIPT can be performed right up until you deliver. The earliest you can get the test is after the first nine weeks of pregnancy.
Understanding the Results
While the test’s overall accuracy is high, the results may give a false positive (meaning it reports an increased risk when the condition is not present) or a false negative (meaning it reports a decreased risk when the condition is present).
Sometimes, NIPT results will come back as “no result reported.” This most commonly occurs when the amount of cell-free DNA from the pregnancy is too low.
The proportion of cell-free DNA from the pregnancy compared to the cell-free DNA in your blood is called the fetal fraction. NIPT requires a fetal fraction of at least 4% to provide accurate results.
The fetal fraction may be lower in people who have higher body weights or if the testing is performed too early in the pregnancy. 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.
Options include:
A Word From Verywell
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.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.Health Quality Ontario.Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions: a health technology assessment.Ont Health Technol Assess Ser. 2019;19(4):1-166.Natera.Panorama non-invasive prenatal testing (NIPT).MedlinePlus.Down syndrome tests.Roche Diagnostics.Information about redraw requests and inconclusive results with the Harmony prenatal test®.
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.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.Health Quality Ontario.Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions: a health technology assessment.Ont Health Technol Assess Ser. 2019;19(4):1-166.Natera.Panorama non-invasive prenatal testing (NIPT).MedlinePlus.Down syndrome tests.Roche Diagnostics.Information about redraw requests and inconclusive results with the Harmony prenatal test®.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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.Health Quality Ontario.Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions: a health technology assessment.Ont Health Technol Assess Ser. 2019;19(4):1-166.Natera.Panorama non-invasive prenatal testing (NIPT).MedlinePlus.Down syndrome tests.Roche Diagnostics.Information about redraw requests and inconclusive results with the Harmony prenatal test®.
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.
Health Quality Ontario.Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions: a health technology assessment.Ont Health Technol Assess Ser. 2019;19(4):1-166.
Natera.Panorama non-invasive prenatal testing (NIPT).
MedlinePlus.Down syndrome tests.
Roche Diagnostics.Information about redraw requests and inconclusive results with the Harmony prenatal test®.
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