Two of the most common tests that tell you about your reproductive health and your baby’s well-being are carrier screening and noninvasive prenatal testing (NIPT).
Even though both tests are linked to family planning, they serve completely different purposes. Carrier screening checks whether you can pass genetic conditions to your children, while NIPT analyzes your baby’s DNA for chromosomal conditions like Down syndrome.
Neither test is mandatory, but both can help you make more informed decisions about your family’s future. In this guide, we’ll compare carrier screening vs. NIPT, focusing on what they test for, how much they cost, and their roles in family planning.
What is carrier screening?
Carrier screening is a test that checks if you carry genes linked to inherited genetic conditions. This test is typically done because most carriers don’t suffer from actual conditions but can pass them on to their children.
Since everyone gets two copies of a gene, one from each parent, inheritance occurs as follows:
If you receive two normal copies of a gene, you won’t have a genetic condition
If you inherit two mutated copies of a gene, you will have a genetic condition
If you inherit one normal copy and one mutated copy, you’ll be a carrier of a genetic condition
Keep in mind that this isn’t the case for all inherited conditions. Some illnesses, like hemophilia in men, can occur when you have only one mutated gene. Still, for many genetic conditions, you need two mutated copies for symptoms to appear.
That’s why many couples undergo carrier screening to check their combined risk of passing on inherited conditions. Check out the potential risks in the table below:
Parent 1 | Parent 2 | Chance of the baby inheriting the condition |
Carrier | Non-carrier |
|
Carrier | Carrier |
|
What is NIPT?
Noninvasive prenatal testing (NIPT) is a screening test that checks whether a baby has chromosomal abnormalities. People should receive 23 from each parent, making a total of 46 chromosomes.
NIPT analyzes your baby’s DNA (also known as fetal DNA) to see if any of the 23 pairs of chromosomes are missing or duplicated. Chromosomal abnormalities can cause genetic conditions such as:
Down syndrome (Trisomy 21)
Patau syndrome (Trisomy 13)
Fragile X syndrome
NIPT can also tell your baby's sex, since it checks for sex chromosome abnormalities. However, the primary purpose of the test is to estimate the possibility of your baby having a chromosomal condition.
NIPT is not a diagnostic test. The results only tell you the likelihood of a chromosomal abnormality being present. If there’s a higher risk, doctors would recommend further testing, such as amniocentesis, to confirm the diagnosis.
NIPT vs. Carrier screening: 7 key differentiators
NIPT and carrier screening are linked to family planning, but they serve different purposes and screen for different conditions. To better understand what sets them apart, let’s look at:
How each test is performed
Conditions they check for
Why they are recommended
Ideal timing for testing
Cost
Accuracy and limitations
Accessibility
1. How NIPT vs. carrier screening is performed
NIPT is done by taking a blood sample from a pregnant woman’s arm. This blood contains small fragments of the baby’s DNA, which are checked for missing or duplicate copies of a chromosome.
Carrier screening is a genetic test that can be performed on both parents. For a baby to develop a genetic condition, a couple must have mutated copies of the same gene.
In certain cases, only the mother would need to undergo carrier screening. For example, hemophilia, a bleeding disorder, is an X-linked condition passed down through the maternal line.
Since men only receive one X chromosome, they will have the condition if they inherit a mutated gene. Alternatively, women have two X chromosomes, so even if they inherit a mutated gene, the second X can compensate. They would be carriers but wouldn’t have the condition.
Carrier screening uses one of the three sample types:
Blood
Saliva
Cheek swab (buccal cells)
2. Conditions they check for
Source: MART Production
Carrier screening focuses on your genes and checks whether you have any mutations that could lead to inherited conditions. NIPT examines your baby’s chromosomes to see whether any are missing or duplicated.
The conditions NIPT and carrier screening tests for are outlined below:
Carrier screening | NIPT |
|
|
Unlike the conditions carrier screening checks for, most chromosomal abnormalities are not inherited but occur randomly during conception. In rare cases, some chromosomal abnormalities can be inherited, mainly those caused by balanced translocations.
Tip 👩❤️👨
The number of conditions carrier screening tests for often depends on the provider and the technology they use. If you’re interested in screening for 2,000+ conditions at once, Nucleus can be a great option.
Nucleus Family offers expanded carrier screening via an at-home DNA test. While most carrier tests on the market analyze limited genome locations, Nucleus examines almost your entire DNA for variants linked to heart health, mental and cognitive health, cancers, metabolism, and more.
Whether planning a pregnancy or curious about your genetic health, this test provides broader insights than standard tests and can support important reproductive decisions. Order today!
3. Why carrier screening and NIPT are recommended
Carrier screening is recommended for couples planning a pregnancy, especially when they fall under these categories:
Family history of genetic conditions: If you have a close relative who has a genetic disorder or carries mutations linked to certain conditions, there’s a chance you can be a carrier.
High-risk ethnic groups: Certain ethnic groups have a higher chance of carrying some genetic conditions. For example, individuals of Ashkenazi Jewish descent are more likely to carry mutations linked to Tay-Sachs disease, while sickle cell disease is more prevalent among Africans. While these conditions can occur in any ethnic group, those in higher-risk populations are often encouraged to undergo screening.
People with symptoms of a genetic disorder: Most carriers of genetic conditions don’t have symptoms, but in some cases, mild symptoms may appear, and they can choose to undergo testing for confirmation.
Even if none of these factors apply to you, carrier screening is still recommended since most people aren’t aware of the genetic disorders they carry.
Meanwhile, NIPT is recommended for most pregnant women, regardless of risk factors, especially for women over 35 as the chances of chromosomal abnormalities increase with age.
4. Ideal timing for testing
If you’re undergoing NIPT, you’ll typically be advised to wait until at least 10 weeks of pregnancy to take the test to ensure that the fetal DNA in your bloodstream is enough. If the amount of your baby’s DNA in your bloodstream is too low, the test can return as inconclusive, and you’d have to retake it.
Carrier screening is highly recommended before pregnancy. Testing prior to conception gives you more time to understand your genetic risks, explore different reproductive options, and seek genetic counseling. Carrier screening can still be done during pregnancy if you need to make data-backed decisions about prenatal testing and care.
5. Cost
The cost of NIPT varies depending on the provider and insurance coverage. Many NIPT providers accept insurance plans, but coverage differs, so it’s important to check with your insurance company to confirm if they can cover the test. Usually, NIPT can cost anywhere from $100 to $2,000, depending on the lab and the specific test panel.
Carrier screening typically costs about $300 to $1,000. The exact amount depends on the number of conditions tested, the technology used for screening, and insurance coverage.
6. Accuracy and limitations
Source: Pavel Danilyuk
NIPT is a screening test, so it can only estimate the likelihood of your baby having a genetic condition. It carries a risk of false positives and negatives when the test wrongly detects or misses chromosomal abnormalities.
Still, NIPT is generally highly reliable in detecting Down syndrome, with an accuracy rate of about 99%. It’s less accurate for conditions like Patau syndrome and Edwards syndrome. If your results indicate a high risk, a diagnostic test like amniocentesis should confirm the results.
Accuracy in carrier screening depends on the technology used by the provider. Most traditional carrier screening providers use genotyping, which only examines 0.1% of your DNA and can miss genetic variants. More advanced methods like whole genome sequencing (WGS), used by providers like Nucleus, can analyze nearly 100% of your DNA with 99.9% accuracy, making it far more comprehensive.
Also, the breadth of the test panel matters. If a provider only screens for a few common variants, it may miss less frequent mutations. For example, cystic fibrosis has over 1,000 known variants, so a test that doesn’t screen for a wide range of mutations could provide an incomplete picture.
7. Accessibility
NIPT and carrier screening are widely available through multiple providers, but their accessibility depends on the provider’s requirements.
For NIPT, most providers require a doctor’s order before you can take the test. You’ll typically need to go through your healthcare provider, who will determine whether the test is right for you and then arrange for the sample collection.
Carrier screening tends to offer more flexibility. Some providers require a doctor’s order, while others allow you to order the test yourself without a prescription. Also, testing companies like Nucleus offer at-home test kits that allow you to collect your samples without visiting a clinic.
Carrier screening vs. NIPT: Which genetic test is right for you?
When it comes to genetic testing, carrier screening and NIPT usually aren’t an either/or decision since they serve different purposes. If you’re trying to decide which test is right for you, consider your family planning stage.
In case you’re already pregnant and are over 35, NIPT could be the test you prioritize since it can tell you the risk of your baby having chromosomal conditions, which carrier screening cannot do. Depending on the NIPT results, you may follow up with further diagnostic tests.
Alternatively, carrier screening could be a better place to start if you're planning a pregnancy, since it checks whether you and your partner carry genetic mutations that could affect your baby. Carrier screening can still be beneficial even if you’re already pregnant. If you and your partner are carriers of the same condition, a genetic counselor can guide you through the next steps, including prenatal diagnostic testing to determine if your baby has inherited the condition.
If you’re looking to get comprehensive carrier screening for a healthy pregnancy, Nucleus Family can be your go-to test. It can screen for over 900 inherited conditions and traits and help you make informed choices regarding family and pregnancy planning.
How Nucleus Family can support your family planning journey
Nucleus Family carrier screening test is powered by whole genome sequencing, one of the most advanced genetic testing technologies available today.
Unlike traditional methods, which analyze only small portions of DNA, Nucleus examines the entire genome, detecting variants linked to inherited conditions.
The best way to make the most of carrier screening is for you and your partner to get tested. Nucleus Family makes this easy with its partner syncing feature, which automatically matches and compares your results to give you a complete picture of your combined genetic risk. That way, you can better understand the likelihood of passing on a genetic condition and take the appropriate steps in family planning.
Nucleus also helps with the next steps. Once you receive your reports, Nucleus AI can generate personalized recommendations based on your disease risk factors. If you prefer consulting an expert, Nucleus has a partnership with SteadyMD, a network of board-certified genetic counselors who can provide guidance tailored to your situation.
Getting started with Nucleus Family
For [PRICE.KIT_SOLO.ONE], you get an at-home cheek swab kit, two-way shipping, and comprehensive reports. You can get two Nucleus Family kits at a discounted price of [PRICE.KIT_SOLO.TWO].
The test is physician-ordered, meaning Nucleus handles the doctor’s approval for you. To get started, follow these steps:
Provide the necessary information
Order your test kit
After you ship your samples to Nucleus’ lab, you’ll receive your results within six to eight weeks. Nucleus is HIPAA-compliant and works with CAP/CLIA-certified labs, so you get the best standards for data privacy and testing integrity.
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Featured image source: Gustavo Fring
