First-trimester screening vs. NIPT: Which test gives you more accuracy?

Early in pregnancy, you may be offered genetic screening to check for conditions like Down Edwards, or Patau syndrome.

First-trimester screening vs. NIPT are common choices for screening for these conditions, but it’s not always clear which path to take, especially when both tests are safe, non-invasive, and offered around the same time.

In this article, we’ll walk you through what each test can (and can’t) tell you, how they differ, and how to choose the one that aligns with your needs, values, and stage of pregnancy.

What is first-trimester screening (FTS)?

First-trimester screening (FTS) is one of the first genetic tests offered in pregnancy, usually between weeks 11 and 14. It’s non-invasive and combines a blood test and an ultrasound to estimate the chance of certain chromosomal conditions, like Down syndrome and trisomy 18.

While FTS doesn't give a definitive answer, it can help you understand your baby’s risk early on and decide whether further testing makes sense for you.

How is the first-trimester screening done?

Source: Amornthep Srina

First trimester screening combines two steps — a blood test and an ultrasound — to assess the risk of certain chromosomal conditions. Here's what to expect:

1. Blood sample: Your doctor will take a small blood sample from your arm to check the levels of two proteins, PAPP-A and hCG, to help assess the likelihood of chromosomal conditions. This test is non-invasive, fast, and easy.

2. Nuchal translucency ultrasound: The ultrasound is a simple procedure where your doctor uses a handheld device to gently glide over your belly. It measures the fluid at the back of your baby’s neck (called nuchal translucency) to help evaluate the risk of chromosomal conditions (because increased fluid can sometimes be a sign of conditions like Down syndrome or Edwards syndrome).

What is NIPT (non-invasive prenatal testing)?

NIPT is a genetic test that’s typically available after 10 weeks of pregnancy. It looks for certain genetic conditions, like Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13), by analyzing tiny pieces of your baby’s DNA that are naturally present in your bloodstream.

While NIPT can’t give you a definitive diagnosis, it provides highly accurate early insights into your baby’s risk for these conditions, with no risk to you or your baby.

How is an NIPT test done?

NIPT is a simple, non-invasive test that involves the following steps:

1. Blood sample: A healthcare provider will take a small blood sample from your arm. This is quick and easy, just like any routine blood test.

2. Analysis of cell-free DNA (cfDNA): The blood sample contains tiny fragments of your baby’s DNA that circulate in your bloodstream. The lab analyzes these fragments to check for chromosomal conditions like common trisomies (13, 18, and 21).

Source: RDNE Stock project

First-trimester screening vs. NIPT: What sets them apart

When it comes to deciding between FTS and NIPT, the choice isn't always clear-cut. To make the best decision for you and your baby, it’s important to know how these two tests compare across several key areas that can impact your experience and peace of mind.

Here’s what you need to consider:

1. Results and test accuracy

2. Timing

3. Conditions screened for

4. Cost

1. Results and test accuracy

Both FTS and NIPT are screening tests, which means they don’t give a yes-or-no answer. Instead, they estimate how likely it is that your baby has certain genetic conditions.

FTS results usually fall into two categories:

1. A negative/low-risk result means the chance of a condition is small — often reassuring, though not a guarantee.

2. A positive/higher-risk result means the chances are elevated, but it doesn't confirm anything. Many people with higher-risk FTS results go on to have healthy pregnancies. If this happens, your doctor will likely discuss next steps, such as diagnostic testing (e.g., amniocentesis).

NIPT results are also reported as low or high chance, but with greater accuracy than FTS:

1. A low-chance result from NIPT is very reliable for conditions like Down syndrome.

2. A high-chance result doesn’t mean your baby definitely has the condition — it just means further testing is recommended to know for sure.

In rare cases, NIPT may not return a result, often due to not enough fetal DNA in your blood. If that happens, your provider may recommend repeating the test or exploring other options.

[Reddit](https://www.reddit.com/r/NIPT/comments/1g2rkmr/comment/lrrmvyx/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button)(360)

When it comes to the difference in accuracy between FTS and NIPT:

• FTS detects about 96% of Down syndrome cases and has a false positive rate of around 5%

• NIPT is more sensitive, with a detection rate above 99% for Down syndrome and a false positive rate of less than 1%.

Because of this higher accuracy, NIPT can reduce the number of unnecessary invasive follow-up procedures by up to 89% compared to standard first-trimester screening. If minimizing the chance of additional testing is important to you, that may be something to consider.

2. Timing

FTS is typically performed between the 11th and 14th weeks of pregnancy, offering you an early risk assessment for chromosomal conditions. NIPT, on the other hand, can be done as early as the 10th week, giving you even earlier insights into potential issues. This earlier timing can be a major advantage if you want more time to make informed decisions and plan for next steps.

While FTS and NIPT are both popular first-trimester options, you might also hear about other screening methods, such as second-trimester screening or sequential screening. These tests are performed later in pregnancy and might offer different benefits, but they typically don’t provide results as early as FTS or NIPT.

If getting results as early as possible is important to you, NIPT gives you that advantage, allowing more time to process the results and decide on the next steps.

3. Conditions screened for

When it comes to what each test screens for, FTS is focused mainly on the most common conditions, like trisomy 21 (Down syndrome), trisomy 18, and open neural tube defects. It’s a great option if you're looking for a basic assessment of these key genetic risks.

Meanwhile, NIPT screens for the same conditions as FTS, but also includes trisomy 13 and sex chromosome abnormalities (like Turner syndrome and Klinefelter syndrome). Plus, NIPT can even tell you your baby’s sex and look for rarer genetic conditions, such as microdeletions.

So, if you’re mainly concerned about the common conditions, FTS might be all you need. But if you want a more comprehensive look at your baby’s genetic health, NIPT offers a wider range of screenings.

4. Cost

FTS is generally the more affordable option. It usually includes a nuchal translucency ultrasound, blood test, and sometimes a counseling visit. The total cost typically ranges from $449 to $600, depending on the clinic and location. It’s often covered by insurance, especially when performed as part of standard prenatal care. Still, coverage can vary, so it’s a good idea to confirm with your provider ahead of time to avoid unexpected bills. For those paying out of pocket, some clinics offer self-pay discounts, bringing the cost down even further.

NIPT is more expensive but screens for a wider range of conditions. Out-of-pocket costs usually fall between $300 and $1,200, though some labs list prices as high as $1,500, depending on the test brand and any add-ons (e.g., sex chromosome or microdeletion screenings). NIPT is often covered by insurance if you're considered high-risk (for example, if you're over 35 or had abnormal FTS results), but for low-risk pregnancies, coverage can be inconsistent.

As one Reddit user shared, costs for prenatal testing can catch some parents by surprise. One person followed their midwife's advice and completed all the standard tests — including NIPT — only to later face a $12,000 bill when insurance didn’t cover everything.

[Reddit](https://www.reddit.com/r/BabyBumps/comments/x15pso/12000_for_nipt_testing/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button)

If you're considering NIPT, ask your provider for a cost estimate in advance — many clinics can provide one, and some labs offer payment plans or financial assistance if needed.

Bonus read — Explore more about prenatal genetic testing and its benefits with these helpful resources:

• 7 benefits of doing carrier screening

• What is carrier screening?

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Final verdict: NIPT vs. first-trimester screening

NIPT and FTS offer valuable insights but differ in accuracy, timing, and the types of conditions they screen for.

Here's how to decide which test might be best for you:

• If you're seeking an early assessment with an ultrasound to check for structural issues, FTS may be the right option. It’s affordable, widely available, and tests for conditions like Down syndrome and Trisomy 18 as part of your routine prenatal care.

• If you want more precise results with fewer false positives, NIPT provides higher accuracy. This test is also ideal if you're over 35, have a family history of genetic conditions, or want answers earlier in your pregnancy.

Still, while both FTS and NIPT focus on chromosomal abnormalities, they don’t account for other inherited conditions. If you’re interested in understanding your genetic risks — particularly any that could be passed down to your baby — carrier screening might be something you want to consider. With Nucleus Family, you can screen for over 900 inherited conditions and get a more complete picture of your family’s genetic health.

Take control of your family’s future with Nucleus Family

While FTS and NIPT provide insights into chromosomal conditions, they don’t cover every genetic risk that might affect your baby. Carrier screening with Nucleus Family helps you go a step further by testing for hundreds of inherited genetic conditions, giving you a fuller picture of your potential genetic risks.

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Nucleus Family allows you to:

• See the bigger picture of your genetic health: Nucleus Family screens for over 900 genetic conditions, such as cystic fibrosis, sickle cell anemia, and Tay-Sachs — conditions that are often missed by standard prenatal tests.

• Get a clear view of combined risks with partner testing: With Nucleus Family, both you and your partner can get tested and get synced results. This can give you a clearer understanding of your combined genetic risks and help you decide together what steps to take next.

• Take the test easily at home: The test is simple — a cheek swab is all you need, so you can complete it from the comfort of your own home without the need for blood draws or clinic visits.

• Access expert guidance when you need it: If you’re unsure about your results, Nucleus Family connects you to expert genetic counselors through SteadyMD. They’ll walk you through your results, answer your questions, and help you navigate the next steps.

• Receive reliable and secure results: Nucleus Family is HIPAA-compliant and CAP-CLIA certified, meaning your personal information is handled with the utmost privacy and care.

• Save money without compromising quality: Genetic tests can be expensive, often costing thousands of dollars. But with Nucleus Family, you can get both individual and partner testing for just $399 per person ($798 for two).

How to get started with Nucleus Family

Getting started with Nucleus Family is simple and straightforward:

1. Sign up for Nucleus Family

2. Provide your personal information 

3. Place your order

Once you get your Nucleus Family whole-genome test kit, use the easy-to-use cheek swab to collect your DNA sample at home, and mail it back using the included prepaid shipping label. 

Results are typically available in 6–8 weeks. Plus, as Nucleus expands its genetic database, you’ll receive updates, ensuring you stay informed about any new findings relevant to your health.

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Featured image source: Pavel Danilyuk