NIPT Results Explained: What Positive or Negative Means Next

Quick take: A negative NIPT result means the test didn’t detect the chromosomal conditions it screens for, but it isn’t a guarantee that none exist. A positive NIPT result suggests an increased chance of a condition such as Down syndrome, but it’s not a diagnosis—follow-up diagnostic testing and counseling are recommended to confirm and plan next steps. Understanding the nuances of your result, the test’s limitations, and your options can help you feel more prepared and less anxious during this uncertain time.

It’s 2 a.m., you’re curled up on the couch, the phone buzzes with a new message from the lab, and you can feel your heart start to race. “Your NIPT results are ready,” it reads. You’ve heard about NIPT (non-invasive prenatal testing) in prenatal classes, but now the words feel suddenly personal. You wonder: Is this good news? Bad news? What should I do next? Will this change everything?

We get it. The waiting, the uncertainty, the flood of medical terms—it can feel overwhelming. Many parents describe this moment as surreal, like standing at the edge of a cliff with no clear path forward. In this article, we’ll walk you through exactly what a positive or negative NIPT result means, how accurate the test is, what the next steps look like, and where to find support. We’ll also dive into the emotional side of this journey, because your feelings matter just as much as the facts. By the end, you’ll have a clear roadmap, so you can speak confidently with your provider and make informed decisions for you and your baby.

First, let’s briefly revisit why many expectant parents choose NIPT in the first place, and what the test is actually measuring. Understanding the basics will make the rest of the information easier to digest—and help you feel more in control of the process.

What is NIPT and why it’s used

NIPT stands for non-invasive prenatal testing. It’s a screening tool that analyzes tiny fragments of fetal DNA (cell-free DNA) that circulate in a pregnant person’s blood. Because the test only requires a simple blood draw, there’s no risk to the fetus—unlike invasive procedures such as amniocentesis or chorionic villus sampling (CVS). This safety factor is one of the biggest reasons NIPT has become so popular since it was introduced in the early 2010s.

Most people order NIPT to assess the likelihood of the three most common autosomal trisomies (chromosome 21, 18, and 13) and sometimes sex-chromosome conditions (like Turner syndrome or Klinefelter syndrome). The test can be done as early as 10 weeks gestation, giving families early information that can guide further testing, pregnancy planning, or simply provide peace of mind. For many parents, this early glimpse into their baby’s genetic health feels empowering, even if the results are unexpected.

When you’re deciding whether to add NIPT to your prenatal care plan, you’re weighing a few key factors: the desire for early information, the level of risk you’re comfortable with, and how the results might affect your emotional and medical journey. Some parents choose NIPT because they have a family history of chromosomal conditions, while others opt for it simply because they want as much information as possible. There’s no “right” reason—only what feels right for you.

It’s also worth noting that NIPT is not just for high-risk pregnancies. While it was initially recommended for women over 35 or those with other risk factors, the American College of Obstetricians and Gynecologists (ACOG) now states that NIPT can be offered to all pregnant people, regardless of age or risk status. This shift reflects the test’s high accuracy and the growing recognition that all parents deserve access to early genetic screening if they want it.

How NIPT works – what the test looks for

The test reports a “risk score” for each condition, often expressed as a probability (e.g., 1 in 150) or as a “high-risk” versus “low-risk” categorization based on pre-set thresholds. For example, a result of “1 in 500” for trisomy 21 means the test estimates a 1 in 500 chance that the baby has Down syndrome. Some commercial NIPT providers also include additional screens for microdeletions (small missing pieces of chromosomes), fetal sex, and Rh status, but the core screening remains for the three major trisomies.

Because NIPT looks at DNA, not the physical structure of the fetus, it cannot detect many birth defects, such as heart or neural-tube anomalies, or conditions caused by single-gene mutations (like cystic fibrosis or sickle cell disease). It also cannot tell you about the severity of a condition if one is detected. For example, Down syndrome exists on a spectrum, and NIPT cannot predict how mild or severe a child’s symptoms might be. Think of NIPT as a highly sensitive radar that spots certain genetic “signals” early, while other aspects of fetal health still need separate assessment through ultrasounds, anatomy scans, or additional genetic testing.

One important detail to understand is that NIPT is not a diagnostic test. This means it cannot give you a definitive “yes” or “no” answer about whether your baby has a chromosomal condition. Instead, it provides a probability based on the amount of fetal DNA in your blood and the lab’s analysis. This is why follow-up testing is so important if you receive a high-risk result.

Understanding a negative NIPT result

A negative (or “low-risk”) result means the test did not find evidence of the chromosomal abnormalities it screens for. In most cases, a negative NIPT result is reassuring—studies show that the negative predictive value exceeds 99% for trisomy 21, meaning that if the test says “low risk,” the baby almost certainly does not have Down syndrome. For many parents, this news brings a wave of relief, especially if they were feeling anxious about the possibility of a chromosomal condition.

However, “negative” does not equal “guaranteed.” The test’s sensitivity is not 100%, and rare cases of false negatives can occur, especially when the fetal fraction (the proportion of fetal DNA in the sample) is low. Low fetal fraction can happen in early gestation (before 10 weeks), high maternal BMI, or certain placental conditions. For example, if the fetal fraction is below 4%, the lab may not have enough fetal DNA to analyze, which could lead to an inconclusive or inaccurate result. In such cases, your provider may recommend repeating the test a week or two later to ensure accuracy.

If you receive a negative result, most providers will still recommend standard prenatal care—routine ultrasounds, anatomy scans, and other screenings as appropriate for your pregnancy timeline. You can also discuss with your provider whether any additional testing is needed based on personal or family history. For instance, if you have a family history of a condition not screened by NIPT (like spina bifida or a single-gene disorder), your provider may suggest additional tests, such as a detailed ultrasound or carrier screening.

It’s also important to remember that a negative NIPT result does not rule out all genetic conditions. The test only screens for a limited number of chromosomal abnormalities, so it’s still possible for your baby to have other genetic or structural issues. This is why prenatal care includes multiple layers of screening, from blood tests to ultrasounds, to give you the most complete picture of your baby’s health.

Understanding a positive NIPT result

A positive (or “high-risk”) result means the test detected a higher probability of a specific chromosomal condition. The wording can vary—some labs use terms like “high risk for trisomy 21,” “likely Down syndrome,” or “abnormal result”—but the core message is that the likelihood is elevated compared with the general population. It’s natural to feel a mix of emotions when you see this result: fear, confusion, sadness, or even a strange sense of relief that you now have answers. All of these reactions are valid, and it’s okay to take time to process them.

It’s crucial to remember that a positive NIPT result is a screening finding, not a diagnosis. The test’s positive predictive value (PPV) varies by condition, maternal age, and the laboratory’s algorithm. For trisomy 21, PPV can range from 45% to 80% in typical low-risk populations, and higher in older mothers. This means that roughly half of positive results may still be false positives. For trisomy 18 and 13, the PPV is generally lower, around 30-60%, because these conditions are rarer in the general population. These numbers can feel abstract, but they underscore why follow-up testing is so important.

When you get a positive result, the next step is usually a confirmatory diagnostic test—most commonly chorionic villus sampling (CVS) or amniocentesis. These procedures collect fetal cells directly from the placenta or amniotic fluid and can provide a definitive diagnosis through karyotyping (a visual map of the chromosomes) or chromosomal microarray (a more detailed genetic analysis). CVS is typically performed between 10 and 13 weeks of pregnancy, while amniocentesis is done between 15 and 20 weeks. Both procedures carry a small risk of miscarriage—about 0.5-1% for amniocentesis and slightly higher for CVS—but they are the gold standard for confirming or ruling out chromosomal conditions.

In the meantime, many parents experience a wave of emotions: anxiety, relief that they now have answers, or grief if the result confirms a serious condition. It’s common to feel overwhelmed by the sudden influx of information and the pressure to make decisions quickly. Counseling services, either through a genetic counselor or a mental-health professional familiar with prenatal concerns, can help you process the information and explore your options. Many hospitals offer same-day or next-day appointments with genetic counselors to help you understand the results and plan your next steps.

One question that often comes up is whether you can trust a positive NIPT result. The answer is nuanced. While NIPT is highly accurate, it’s not infallible. False positives can occur due to factors like placental mosaicism (where the placenta’s genetic makeup differs from the fetus’s), vanishing twin syndrome (where a second fetus was present early in pregnancy but is no longer viable), or even maternal chromosomal abnormalities (such as a mother with mosaic Turner syndrome). This is why confirmatory testing is so critical—it helps distinguish between true positives and false alarms.

Accuracy, false positives, false negatives, and limitations

NIPT is one of the most accurate screening tools available, but no test is perfect. Below is a summary of typical performance metrics for the three common trisomies, based on large-scale meta-analyses and guidance from ACOG and the UK’s National Institute for Health and Care Excellence (NICE).

These numbers illustrate why a negative result is highly reassuring, while a positive result still needs confirmation. Several factors can influence accuracy:

• Maternal weight: Higher BMI can dilute fetal DNA, lowering the fetal fraction and potentially increasing false-negative rates. If your BMI is above 30, your provider may recommend a repeat test or additional screening to ensure accuracy.
• Gestational age: Testing before 10 weeks may yield insufficient fetal fraction; most labs require at least 10 weeks. If you’re eager to get results early, your provider may suggest waiting until the 10-week mark to ensure the most reliable outcome.
• Placental mosaicism: Occasionally the placenta’s genetic makeup differs from the fetus’s, leading to discordant results. This is one of the most common causes of false positives in NIPT. For example, the placenta might have an extra copy of chromosome 21, but the fetus does not, leading to a positive NIPT result that isn’t confirmed by diagnostic testing.
• Twin pregnancies: NIPT can still be used in twin pregnancies, but interpretation is more complex, especially if one twin is affected. The test may not be able to distinguish which twin has the condition, or it may miss a condition if the affected twin contributes very little DNA to the maternal bloodstream.
• Maternal health conditions: Certain conditions, such as autoimmune disorders or cancer, can affect the amount of cell-free DNA in the bloodstream, potentially leading to inaccurate results. If you have a health condition that might impact the test, discuss it with your provider before proceeding.

Because of these nuances, it’s normal to feel uneasy after a high-risk result. The key is to view NIPT as a first step that guides you toward more definitive testing if needed. It’s also helpful to remember that false positives are more common than false negatives, so a positive result doesn’t necessarily mean your baby has the condition. Confirmatory testing will give you the clarity you need to move forward.

Next steps after receiving NIPT results

Whether your result is negative or positive, you’ll want a clear plan. Below is a practical roadmap you can follow with your provider, along with some additional details to help you feel more prepared.

1. Schedule a results appointment: Most labs provide a phone or video call with a genetic counselor to review your results. If you receive the result by email or patient portal, request a follow-up meeting within a few days. This conversation is your opportunity to ask questions, clarify what the result means, and discuss next steps. Write down any questions you have beforehand—it’s easy to forget them in the moment.
2. Discuss the result in context: Your provider will explain what the specific risk score means for you, considering factors like maternal age, family history, and ultrasound findings. For example, if you’re 35 or older, your baseline risk for chromosomal conditions is higher, which can affect how your provider interprets the result. Similarly, if your ultrasound shows any markers for chromosomal conditions (such as a thickened nuchal fold), your provider may recommend additional testing even if your NIPT result is negative.
3. Decide on confirmatory testing (if high-risk): For a positive NIPT, you’ll typically be offered CVS (10-13 weeks) or amniocentesis (15-20 weeks). Your provider will explain the small procedural risks—about 0.5-1% for miscarriage with amniocentesis, slightly higher with CVS—as well as the benefits of each test. CVS has the advantage of being done earlier in pregnancy, which can give you answers sooner, but it carries a slightly higher miscarriage risk. Amniocentesis is done later but is considered slightly safer. Your provider can help you weigh these factors based on your personal preferences and medical history.
4. Consider counseling: Genetic counselors can help you understand the possible outcomes, discuss the spectrum of conditions, and explore your values and preferences. They can also help you navigate the emotional side of the process, which is just as important as the medical side. Many parents find it helpful to bring a partner or support person to these sessions to help process the information and make decisions together.
5. Plan for pregnancy management: If a diagnosis is confirmed, you’ll discuss options such as continued pregnancy, perinatal care plans, or, where appropriate, termination. If the diagnosis is not confirmed, you’ll continue routine prenatal care. Either way, your provider will help you create a plan that aligns with your values and goals. For example, if you choose to continue the pregnancy after a confirmed diagnosis, your provider may refer you to a maternal-fetal medicine specialist or a pediatric specialist to help you prepare for your baby’s needs.
6. Use resources for numbers: To get a personalized estimate of your risk based on your specific data, try the NIPT / cfDNA Interpreter. It can help you see how your age, weight, and other factors influence the probability of a true positive or false positive result. This tool can also help you understand how your risk compares to the general population, which can be reassuring if you’re feeling anxious.

Throughout this process, keep a notebook or digital folder with copies of your lab reports, counseling notes, and any questions you want to ask. Having everything in one place makes the next appointment smoother and reduces the chance of forgetting important details. You might also find it helpful to jot down your thoughts and feelings as you go through this journey. Writing can be a therapeutic way to process your emotions and track your progress.

What to expect during confirmatory testing (CVS and amniocentesis)

If your NIPT result is positive, your provider will likely recommend either chorionic villus sampling (CVS) or amniocentesis to confirm the diagnosis. These tests are considered the gold standard for diagnosing chromosomal conditions, but they can feel intimidating if you’re not familiar with them. Here’s what to expect during each procedure, along with tips to help you feel more prepared.

Chorionic Villus Sampling (CVS): CVS is typically performed between 10 and 13 weeks of pregnancy. During the procedure, a small sample of placental tissue (chorionic villi) is collected for genetic analysis. There are two ways to perform CVS:

• Transcervical CVS: A thin tube is inserted through the cervix to collect the sample. This method is often used if the placenta is located at the front of the uterus.
• Transabdominal CVS: A needle is inserted through the abdomen to collect the sample. This method is used if the placenta is located at the back of the uterus or if the transcervical approach isn’t feasible.

Both methods are guided by ultrasound to ensure the sample is collected safely. The procedure itself takes about 10-15 minutes, and most people describe it as uncomfortable but not painful. You may feel some cramping or pressure during the procedure, similar to a Pap smear. Afterward, you might experience mild spotting or cramping, but these symptoms usually resolve within a day or two.

The results from CVS are usually available within 7-10 days, though some labs offer rapid testing (called FISH) for the most common trisomies, which can provide results in as little as 24-48 hours. One advantage of CVS is that it can be done earlier in pregnancy, which gives you more time to make decisions if the results are positive. However, CVS cannot detect neural tube defects (like spina bifida), so your provider may recommend a follow-up ultrasound or blood test later in pregnancy to screen for these conditions.

Amniocentesis: Amniocentesis is typically performed between 15 and 20 weeks of pregnancy. During the procedure, a small amount of amniotic fluid is collected using a thin needle inserted through the abdomen. The fluid contains fetal cells that can be analyzed for chromosomal abnormalities. Like CVS, amniocentesis is guided by ultrasound to ensure the needle is placed safely.

The procedure takes about 10-15 minutes, and most people describe it as mildly uncomfortable. You may feel a sharp pinch when the needle is inserted, followed by some pressure or cramping. Afterward, you might experience mild cramping or spotting, but these symptoms usually resolve within a day or two. It’s a good idea to take it easy for the rest of the day and avoid strenuous activity.

The results from amniocentesis are usually available within 10-14 days, though rapid testing (FISH) is also available for the most common trisomies. One advantage of amniocentesis is that it can detect neural tube defects in addition to chromosomal conditions. However, because it’s done later in pregnancy, it may give you less time to make decisions if the results are positive.

Both CVS and amniocentesis carry a small risk of miscarriage—about 0.5-1% for amniocentesis and slightly higher for CVS. This risk is low, but it’s important to discuss it with your provider and weigh it against the benefits of getting a definitive diagnosis. Many parents find that the peace of mind that comes with a confirmed result outweighs the small risk of the procedure.

If you’re feeling anxious about the procedure, it can help to bring a support person with you to the appointment. You might also find it helpful to listen to music or practice deep breathing during the procedure to help you relax. Afterward, plan something comforting for yourself, like a favorite meal or a quiet evening at home. It’s okay to take time to process your emotions, whatever the results may be.

Counseling and support for parents with a positive NIPT result

Receiving a high-risk NIPT result can feel like standing at a crossroads. You may wonder about the condition itself, the health of your baby, and the emotional impact on your family. Professional counseling is a cornerstone of support, and most hospitals have genetic counselors on staff for exactly this purpose. These specialists are trained to help you understand the medical, emotional, and practical aspects of your result, so you can make informed decisions that align with your values.

In a typical counseling session, the specialist will:

• Explain the specific condition(s) flagged by NIPT, including typical health outcomes and variability. For example, if your result is positive for trisomy 21, the counselor will discuss the range of intellectual and physical abilities associated with Down syndrome, as well as the medical interventions and support services available.
• Outline the confirmatory testing options, their timing, and associated risks. The counselor will help you understand the differences between CVS and amniocentesis, including the pros and cons of each, so you can make an informed choice about which test is right for you.
• Discuss potential next steps based on possible outcomes—continued pregnancy with specialized care, enrollment in clinical trials, or termination where legally permissible. The counselor will help you explore all of your options, including the emotional and practical considerations of each. For example, if you choose to continue the pregnancy, the counselor can connect you with resources for early intervention services, support groups, and medical specialists who can help you prepare for your baby’s needs.
• Address emotional reactions, offering coping strategies, peer-support groups, and referrals to mental-health providers if needed. Many parents experience a range of emotions after a positive NIPT result, from shock and sadness to guilt and anxiety. A genetic counselor can help you process these feelings and provide tools to manage them, such as mindfulness techniques or journaling prompts.

Many families find comfort in connecting with others who have walked a similar path. Support groups, both in-person and online, often focus on specific diagnoses (e.g., Down syndrome parent networks) and can provide practical advice, from navigating early-intervention services to planning for school and adulthood. These groups can also be a safe space to share your fears and frustrations, as well as your hopes and joys, with people who truly understand what you’re going through.

If you’re not sure where to start, ask your provider for a list of reputable organizations. In the United States, the National Down Syndrome Society (NDSS) and the International Down Syndrome Coalition are trusted resources. In the UK, the Down’s Syndrome Association (DSA) offers similar guidance. These organizations can connect you with local support groups, educational materials, and advocacy resources to help you feel more prepared and less alone.

It’s also important to remember that your feelings may change over time. What feels overwhelming today might feel more manageable tomorrow, or vice versa. Give yourself permission to feel whatever you’re feeling, without judgment. You don’t have to have all the answers right away, and it’s okay to take things one step at a time.

Emotional and psychological impact of NIPT results

Whether your NIPT result is positive or negative, it’s normal to experience a range of emotions. For many parents, the waiting period between taking the test and receiving the results can be particularly stressful. You might find yourself oscillating between hope and fear, or feeling guilty for even considering the possibility of a chromosomal condition. These feelings are completely normal, and it’s important to acknowledge them rather than push them aside.

If your result is negative, you may feel an overwhelming sense of relief. This is a natural reaction, especially if you were feeling anxious about the test. However, some parents also experience a phenomenon called “survivor’s guilt,” where they feel guilty for feeling relieved while other parents are facing difficult diagnoses. Others may feel a lingering sense of anxiety, wondering if the test missed something or if other issues might arise later in the pregnancy. These feelings are valid, and it’s okay to talk about them with your provider or a counselor.

If your result is positive, you may feel a mix of shock, sadness, anger, or even numbness. It’s common to question why this is happening to you, or to feel overwhelmed by the sudden influx of information and decisions. You might also feel isolated, as if no one else could possibly understand what you’re going through. These reactions are normal, and it’s important to give yourself time to process them. Many parents find it helpful to talk to a therapist or counselor who specializes in prenatal issues, as they can provide a safe space to explore your feelings without judgment.

One of the most challenging aspects of a positive NIPT result is the uncertainty it brings. Until you have confirmatory testing, you won’t know for sure whether your baby has the condition. This limbo can feel excruciating, and it’s normal to feel impatient or frustrated. Some parents find it helpful to focus on the present moment, taking things one day at a time. Others find comfort in connecting with support groups or online communities, where they can share their experiences and learn from others who have been through the same thing.

It’s also important to remember that your feelings may change over time. What feels overwhelming today might feel more manageable tomorrow, or vice versa. Give yourself permission to feel whatever you’re feeling, without judgment. You don’t have to have all the answers right away, and it’s okay to take things one step at a time. Many parents find that their feelings evolve as they learn more about the condition and connect with other families who have been through similar experiences.

If you’re struggling with anxiety or depression, don’t hesitate to reach out for help. Many hospitals offer mental-health services for expectant parents, and your provider can refer you to a therapist who specializes in prenatal issues. You might also find it helpful to practice self-care techniques, such as mindfulness, journaling, or gentle exercise, to help manage your emotions. Remember, taking care of your mental health is just as important as taking care of your physical health during pregnancy.

Implications of NIPT results for pregnancy management and decision-making

When a positive NIPT result is confirmed by diagnostic testing, you’ll face a series of choices that are deeply personal. The options can include:

• Continuing the pregnancy: Planning for specialized perinatal care, considering early intervention services, and discussing delivery options (vaginal vs. cesarean) with your obstetrician. If you choose to continue the pregnancy, your provider may refer you to a maternal-fetal medicine specialist or a pediatric specialist to help you prepare for your baby’s needs. For example, if your baby is diagnosed with Down syndrome, you may be connected with early intervention services, such as physical therapy or speech therapy, to support your baby’s development from birth.
• Pregnancy termination: If legally available in your region, you may explore this route after thorough counseling. Many clinics provide multidisciplinary support to ensure you’re fully informed about the medical and emotional aspects of this decision. It’s important to remember that this is a deeply personal choice, and there’s no “right” or “wrong” answer. Your provider and counselor can help you explore your options and make the decision that feels right for you.
• Adopting a “watch-and-wait” approach: Some families choose to wait for additional ultrasound findings before making a definitive decision. For example, if your NIPT result is positive for trisomy 18, your provider may recommend a detailed ultrasound to look for structural anomalies that could help you make a more informed decision. This approach can give you more time to process the information and explore your options, but it can also prolong the period of uncertainty.

Regardless of the path you choose, the emphasis remains on informed, values-aligned decision-making. Your provider will respect your autonomy, and you’re encouraged to involve partners, family members, or spiritual advisors as you see fit. It’s also important to remember that your decision doesn’t have to be permanent. For example, if you choose to continue the pregnancy but later decide that you need more support, you can always revisit your options with your provider.

For pregnancies where the NIPT result is negative, you can generally proceed with standard prenatal care. However, certain high-risk scenarios—such as a family history of a condition not screened by NIPT—may still warrant additional testing later in pregnancy. For example, if you have a family history of spina bifida or a single-gene disorder like cystic fibrosis, your provider may recommend additional screening or diagnostic testing to assess your baby’s risk.

It’s also worth noting that NIPT results can sometimes reveal unexpected information about your own health. For example, if the test detects a maternal chromosomal abnormality, such as mosaic Turner syndrome, your provider may recommend further evaluation to assess your health and discuss any implications for future pregnancies. While this is rare, it’s important to be aware of the possibility and to discuss it with your provider if it arises.

Alternatives to NIPT: Other prenatal screening options

While NIPT is one of the most accurate and popular prenatal screening options, it’s not the only one available. Depending on your personal preferences, medical history, and gestational age, your provider may recommend other screening tests or a combination of tests to assess your baby’s risk for chromosomal conditions. Here’s a brief overview of the most common alternatives to NIPT:

• First-trimester combined screening: This test combines a blood test (measuring pregnancy-associated plasma protein-A, or PAPP-A, and human chorionic gonadotropin, or hCG) with a nuchal translucency ultrasound (measuring the fluid at the back of the baby’s neck). The results are combined with your age to estimate your baby’s risk for trisomy 21, 18, and 13. This screening is typically done between 11 and 14 weeks of pregnancy and has a detection rate of about 85-90% for trisomy 21. While it’s less accurate than NIPT, it’s also less expensive and may be a good option if you’re looking for a more affordable screening tool.
• Quad screen: This blood test measures four substances in your blood (alpha-fetoprotein, hCG, estriol, and inhibin A) to estimate your baby’s risk for trisomy 21, 18, and neural tube defects. It’s typically done between 15 and 22 weeks of pregnancy and has a detection rate of about 80% for trisomy 21. Like the first-trimester combined screening, the quad screen is less accurate than NIPT but may be a good option if you’re looking for a more affordable screening tool.
• Integrated screening: This test combines the first-trimester combined screening with the quad screen to provide a more accurate risk estimate. It’s typically done in two parts: the first-trimester blood test and ultrasound, followed by the quad screen in the second trimester. The results are combined to estimate your baby’s risk for trisomy 21, 18, and neural tube defects. This screening has a detection rate of about 90-95% for trisomy 21, making it more accurate than either test alone. However, it also requires two separate blood draws and may not be available in all areas.
• Cell-free DNA screening (cfDNA) for microdeletions: Some NIPT providers offer additional screening for microdeletions, which are small missing pieces of chromosomes that can cause conditions like DiGeorge syndrome or Prader-Willi syndrome. While these conditions are rare, some parents choose to include this screening for added peace of mind. However, it’s important to note that the accuracy of cfDNA screening for microdeletions is lower than for the common trisomies, and false positives are more common. Your provider can help you weigh the pros