Noninvasive prenatal testing explained

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The earlier you have testing done, the more information you and your doctor will have to make choices about your baby’s health as your pregnancy progresses.

Noninvasive prenatal testing (NIPT) can be performed as early as week 10. This quick blood test screens strands of a baby’s DNA that float around in a pregnant mother’s body. It’s an easy way to determine if a baby is at risk of having certain genetic disorders as early as week 10.

It’s a screening test

The first major thing to understand about NIPT is the difference between a “screening test” and a “diagnostic test.”

A screening test detects the likelihood that a condition is present while a diagnostic test confirms it. Think of it like buying baby gear online. You can look at pictures, check the specs of a product, and read reviews to try and determine if it’s a good fit for you – that’s screening. When you actually go to a store and try it out, that’s diagnostic.

By using NIPT, doctors can reduce how often they perform more invasive “diagnostic” tests by first determining if they’re needed. In fact, the use of modern NIPT leads to 89% fewer invasive tests than traditional serum screening.

Three major chromosomal conditions

The primary use for NIPT is to determine how likely it is that a baby could be born with an abnormal number of certain chromosomes, often called aneuploidy. Having too many, or too few, of a chromosome can result in physical and developmental complications for a baby. A genetic disorder can also make it difficult or impossible to carry a pregnancy to term.

An NIPT test will screen for three common genetic abnormalities:

  • Trisomy 13, also known as Patau syndrome
  • Trisomy 18, called Edwards syndrome, which occurs in 1 in every 2,500 pregnancies.
  • Trisomy 21, or, as it is more commonly known, Down syndrome, which is the most common chromosomal condition and is correlated with increased maternal age

NIPT can also tell you the sex of your baby as early as week 10!

Several small deletions

It’s rare, but sometimes when DNA replicates itself something gets left out. And sometimes, that “something” is really important.

NIPT testing also looks at a baby’s DNA to screen for “microdeletions,” or small bits of genetic code that aren’t being properly transcribed. Microdeletions are rare, and they can have a range of effects, some of which can be life-threatening.

NIPT can provide you and your doctor with valuable information to help make sure the next steps you take are the right ones.

To learn more about NIPT, tap the link below.

Learn more

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Noninvasive prenatal testing (NIPT) is a screening test; it is not diagnostic. Results should be confirmed by diagnostic testing prior to making any pregnancy management decisions.

  • “What is trisomy 18?” Trisomy 18 Foundation. Trisomy 18 Foundation.
  • “Trisomy 13.” Genetics Home Reference. National Institute of Health. January 29, 2019.
  • “Down Syndrome.” National Down Syndrome Society. National Down Syndrome Society.
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