NIPT test: A safe, early look at your baby’s health

Thinking about undergoing a prenatal test can stir up a range of emotions, especially when you're uncertain about what to expect. The stress of not knowing what the process will involve, combined with concerns about invasive procedures, can make this decision feel even more overwhelming. 

Fortunately, non-invasive prenatal testing (NIPT) offers a non-invasive and simple solution. This test screens for common genetic conditions early in pregnancy, providing you with valuable insights without any risk to your baby.

In this article, we'll walk you through how the NIPT test works, its benefits, and what to consider before deciding if it's right for you. By the end, you’ll have a clearer understanding, helping you make an informed choice with confidence. 

What is the NIPT test?

NIPT analyzes tiny fragments of a baby’s DNA that circulate in the mother’s bloodstream. These pieces, called cell-free DNA (cfDNA), come from the placenta and carry genetic information about your baby. By analyzing cfDNA, an NIPT test can assess whether your baby is at risk of having certain chromosomal conditions.

What does the NIPT test for?

Source: Kaboompics

The NIPT test screens for genetic conditions caused by extra or missing chromosomes, which can affect your baby’s health and development. Some of these changes may lead to developmental challenges, while others might require closer monitoring or care after birth.

NIPT tests most commonly screen for:

1. Common trisomies

2. Microdeletions 

3. Sex chromosome conditions

4. Rh factor

The following sections explain these conditions in greater detail.

1. Common trisomies

When you undergo NIPT, one of the main things it screens for are trisomies, which are genetic disorders caused by an extra chromosome. Understanding these conditions helps you grasp what they could mean for your baby’s development and health and gives you clarity on what might lie ahead.

Here’s a closer look at what each condition involves:

2. Microdeletions

Some NIPT tests can also screen for microdeletions — tiny missing pieces of chromosomes. While these deletions are much smaller than the chromosomal extra copies associated with trisomies, they can still cause significant developmental issues and health concerns.

Microdeletions can lead to a range of conditions, including DiGeorge syndrome, Prader-Willi syndrome, and Angelman syndrome, each with its own set of characteristics. These genetic changes can impact various aspects of your baby’s development, including their heart function, immune system, and behavior.

For example:

• DiGeorge syndrome can cause heart defects, immune system issues, and developmental delays.

• Prader-Willi syndrome is associated with intellectual disabilities, feeding difficulties in infancy, and later, an insatiable appetite leading to obesity.

• Angelman syndrome results in developmental delays, movement or balance problems, and speech difficulties.

Identifying potential microdeletions through NIPT gives you early insight into your baby's health, helping you ensure they receive the right medical attention and interventions to give them the best chance for a positive outcome.

3. Sex chromosome abnormalities

Source: TheDigitalArtist

An NIPT test can also screen for differences in the number of sex chromosomes — the X and Y chromosomes that typically determine a baby’s biological sex. These conditions are usually less common and often milder than trisomies, with many individuals showing few or no symptoms early in life. Examples of such conditions include:

• Turner syndrome: A condition where a female child has one X chromosome instead of two. It may affect growth, puberty, and fertility, and is sometimes associated with heart or kidney defects.

• Klinefelter syndrome: A male child with this condition has an extra X chromosome. While signs can be subtle in childhood — like mild learning differences or delayed speech — the condition can also affect physical development and fertility later in life.

• Triple X syndrome (XXX): A female child with this condition has an additional X chromosome. Most don’t show clear symptoms, though some may experience taller stature, mild learning delays, or speech and motor challenges.

• XYY syndrome: This occurs when a male child has an extra Y chromosome. Some boys may be taller than average or experience learning or speech delays.

These conditions can vary widely in how (or whether) they present, and early awareness gives you more options to support your baby’s health and development from the start.

4. Rh factor

Some NIPTs can test for your baby's Rh factor to determine whether your baby’s blood type is Rh-positive or Rh-negative. This is particularly important if you're Rh-negative, as it could trigger an immune response against your baby’s blood cells if they're Rh-positive, a condition known as Rh incompatibility.

If you're Rh-negative and carrying an Rh-positive baby, your immune system might produce antibodies that could harm your baby in future pregnancies. In this case, your doctor may recommend a RhoGAM injection during pregnancy, which can prevent complications by stopping your body from developing these antibodies.

How does NIPT work?

Source: Pranidchakan Boonrom

If you're considering NIPT, here's what you can expect during the process:

1. Providing a blood sample: The test begins with a small blood draw from your arm, just like any regular blood test.

2. Lab analysis: The blood sample contains cell-free DNA (cfDNA), tiny fragments of your baby’s DNA from the placenta. In the lab, specialists analyze the cfDNA to detect potential chromosomal conditions by examining the genetic information it carries.

3. Receiving your results: Typically, you'll receive your results within a week or two, although some tests may take a bit longer due to more detailed analysis.

When is the NIPT test recommended?

While NIPT provides valuable information, it's not necessary for every pregnancy. Still, there are specific situations where your doctor might recommend it:

1. You’re 35 or older: The risk of certain chromosomal conditions increases with maternal age, making NIPT a helpful screening tool.

2. Your first-trimester screening shows a higher risk: If your first-trimester or combined screening shows a higher chance of chromosomal differences, NIPT can offer more accurate results before considering diagnostic tests like amniocentesis.

3. You have a family history of genetic conditions: If certain genetic disorders run in your family, NIPT can provide early insight into whether your baby may be affected.

4. You’re expecting twins: Some NIPTs can be used in twin pregnancies, but the range of detectable conditions may be more limited, and accuracy can vary. Your doctor can help you understand whether it's a good fit for your situation.

That said, there are also situations where NIPT might not be recommended. For example, if you’ve recently had a blood transfusion, bone marrow transplant, or stem cell therapy, donor DNA could interfere with results. 

The same goes for certain cancer treatments or an active cancer diagnosis. Additionally, if you're carrying triplets (or more) or the pregnancy is beyond 21 weeks and 6 days, your doctor may recommend alternative screening options.

When is NIPT done?

You can take the NIPT as early as 10 weeks into your pregnancy, because by then, there's enough fetal DNA in your bloodstream for accurate analysis. Early testing means you’ll have more time to understand the results and discuss next steps with your doctor.

In some cases, NIPT may be recommended later in the pregnancy, especially if an ultrasound reveals signs that could indicate a chromosomal condition. This gives you a non-invasive way to gather more information and decide whether to move forward with more invasive tests like amniocentesis.

Depending on the results, you and your doctor can explore the best course of action, whether it’s further diagnostic testing, extra monitoring, or preparing for additional medical support.

Understanding NIPT test results

When you receive your NIPT results, they’ll generally fall into one of three categories:

1. Low-chance result: This means your baby is unlikely to have conditions like Down syndrome, Edwards syndrome, or Patau syndrome. While no further testing is typically needed, keep in mind that NIPT isn’t a diagnostic test. It reduces the likelihood of certain genetic conditions but doesn’t rule them out completely.

2. High-chance result: A high-chance result means there’s an increased likelihood of a genetic condition. However, it’s important to note that this is not a definitive diagnosis. If you receive this result, your doctor will likely recommend follow-up diagnostic tests, such as amniocentesis or chorionic villus sampling (CVS), to provide a more conclusive answer.

3. No result: Occasionally, NIPT might return an inconclusive result, often due to insufficient fetal DNA in the sample or technical issues with the test. In this case, you may be advised to repeat the test, pursue other non-invasive prenatal testing options, or consider diagnostic testing like amniocentesis or CVS. Your doctor will help guide you through the next steps to decide the best course of action.

While NIPT is highly accurate, false positives can still happen. A false positive means the test indicates a higher likelihood of a condition, but further testing (like amniocentesis or CVS) reveals the baby is not affected.

[Reddit](https://www.reddit.com/r/NIPT/comments/1f2iliv/comment/lkcx65p/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button)(380)

NIPT is one of the most accurate prenatal screening tests available, but accuracy rates can vary depending on the condition being tested. For instance:

• Trisomy 21 (Down syndrome): ~99% accurate

• Trisomy 18 (Edwards syndrome): ~97% accurate

• Trisomy 13 (Patau syndrome): ~87% accurate

That said, accuracy isn’t uniform across all parts of the test. For example, options like screening for microdeletions or rare conditions may sound appealing, but they often come with lower accuracy and a higher risk of false positives. That’s why some expectant parents choose to opt out of those add-ons.

[Reddit](https://www.reddit.com/r/pregnant/comments/1d9l27x/comment/l7ec6by/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button)(370)

Bonus read — Check out our detailed reviews of these NIPT testing companies.

• Natera genetic testing reviews

• MaterniT 21 vs. Natera

[CTA]({
  "title":"Get 10% off your whole-genome kit",
  "cta":{
    "label":"Order your kit",
    "href":"https://www.mynucleus.com/product?promocode=welcome10"
  }
})

How much does NIPT cost?

NIPT isn’t always cheap, but depending on your insurance and location, it might be more affordable than you think.

NIPT may be covered in certain high-risk cases (like maternal age over 35 or abnormal first-trimester screening). In private healthcare settings or without insurance, the out-of-pocket cost usually falls between $300 and $1,200, though the full list price can sometimes reach as high as $1,500, depending on the lab.

That range can vary based on:

• The lab or brand of test your provider uses

• Whether you include extras like sex chromosome analysis or microdeletions

• How billing is handled (direct to lab vs. through your clinic)

If cost is a concern, it’s absolutely worth asking your healthcare provider in advance. Many can give you a cost estimate, and some labs even offer payment plans or financial assistance programs.

For example, one patient shared that she was billed $600 for her NIPT but hadn’t been informed of the cost upfront — after calling the lab, they reduced her bill to $60.

[Reddit](https://www.reddit.com/r/BabyBumps/comments/ywyt5j/comment/iwmsbjb/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button)

How NIPT compares to other prenatal genetic testing options

There’s no shortage of prenatal testing options out there, which can make it hard to know what’s right for you. Below, we’ll walk you through how NIPT stacks up against other common tests, with a focus on what each one actually offers, when it’s most useful, and why one might fit your situation better than another.

NIPT vs. first-trimester screening

If you're deciding between these two early options, think about what kind of clarity you want and how much information you need upfront.

NIPT tends to win in terms of accuracy. It’s a simple blood test that screens for chromosomal conditions with fewer false positives. You can take it as early as 9–10 weeks, and it’s especially helpful if you’re looking for peace of mind early in the pregnancy.

First-trimester screening (FTS), on the other hand, combines a blood draw with an ultrasound. It’s less precise than NIPT, but it does give you a more general picture of your baby’s anatomy early on. If you want a broader, slightly more budget-friendly overview in the first trimester, it can still be a good starting point.

If accuracy and early answers matter most, it’s best to go with NIPT. Consider FTS if you’re balancing cost or looking for an early anatomy snapshot.

NIPT vs. carrier screening (reproductive genetic screening)

NIPT looks at your baby’s DNA to screen for chromosomal conditions like Trisomy 21 (Down syndrome), Trisomy 18, or Trisomy 13.

Carrier screening looks at your DNA (and possibly your partner’s) to see if you carry any inherited genetic conditions — like cystic fibrosis, sickle cell disease, or Tay-Sachs — that you could unknowingly pass on.

If you have a family history of a genetic disorder or want to understand what conditions you might pass on, carrier screening is a better fit. If you’re specifically concerned about chromosomal conditions in your baby, NIPT is the way to go.

NIPT vs. amniocentesis

Both tests provide information about genetic conditions, but the key difference is certainty vs. risk.

NIPT is a safe, non-invasive screening test that estimates the risk of chromosomal conditions but doesn’t provide a definite diagnosis. Amniocentesis, on the other hand, is a diagnostic test, meaning it can confirm whether a condition is present by testing amniotic fluid. It’s typically done after 15 weeks and does carry a small risk of miscarriage (about 0.1%–0.3%).

For a safer, earlier look, it’s usually good to start with NIPT. If it shows something concerning, your doctor might recommend amniocentesis to get a definitive answer.

NIPT vs. quad-screen

NIPT and quad screen are both screening tests that estimate the risk of chromosomal conditions, but they work differently.

NIPT can be done earlier (starting around 9–10 weeks) and is generally more accurate because it looks directly at fetal DNA. Meanwhile, the quad screen happens later, between 15 and 18 weeks, and measures hormone levels to estimate risk. It’s less precise, but some providers may still recommend it if you skipped earlier screening or didn’t have access to NIPT.

NIPT is usually the better choice for early and more accurate results. Still, a quad screen may be offered in the second trimester if you didn’t do NIPT earlier on.

Key benefits and limitations of the NIPT test

NIPT is a solid first step for early insight into your baby’s health. It’s accurate, non-invasive, and offers answers sooner than many other prenatal tests. Still, like any screening, it has its limitations. Here’s a quick overview of what it can offer — and where it leaves room for more:

NIPT gives many parents peace of mind early on, but it’s not the end of the story. Depending on your family history, health goals, or just how much clarity you want, you might consider layering in other types of genetic testing.

One option is carrier screening, which analyzes your (or your partner’s) DNA — not your baby’s — to identify whether either of you is unknowingly carrying a genetic condition that could be passed down. Even if your NIPT results come back low-risk, carrier screening can help fill in the gaps and give you a more complete picture of your family’s genetic health.

Nucleus: The future of family planning

While NIPT can offer insights into your baby’s health, there’s more you can learn to make the best decisions for your family’s future. If you want to go deeper, Nucleus Family can provide a fuller picture of your genetic risks with whole-genome sequencing, helping you understand your options and plan accordingly.

Nucleus Family specializes in carrier screening and partner testing, helping you determine whether you or your partner carry gene variants linked to inherited conditions that could be passed down to your children.

[X](https://x.com/duncan__c/status/1890393105515380877)(960)

Nucleus can guide your family planning decisions by:

• Identifying your genetic risks: It screens for over 900 hereditary conditions, giving you clarity on whether you or your partner carry genes that could affect your children.

• Evaluating your combined genetic risk: With synced results for both partners, Nucleus provides a full picture of your genetic compatibility, helping you understand potential risks and plan accordingly.

• Accessing expert genetic counseling: Receive support from genetic counselors who can help interpret your results and guide you through your next steps, whether it’s further testing or family planning options.

• Offering affordability and accessibility: At just $399 ($798 for both partners), Nucleus offers an affordable solution with FSA/HSA eligibility, making it easy to incorporate into your family planning budget.

How to get started with Nucleus Family

Starting with Nucleus is quick and easy:

1. Sign up for Nucleus Family

2. Fill in your personal information

3. Order your whole-genome test kit

Swab your cheek and send the sample to the lab. Once your sample is submitted, your results will be available within 6–8 weeks through a secure online portal.*

*Nucleus Family is committed to accuracy and privacy. It is HIPAA-compliant and CAP-CLIA certified, ensuring your genetic data is handled with the highest precision standards.

You may also like…

Learn more from our prenatal genetic testing sources:

Featured image source: estebantroncosofoto0