by Adriana Gallardo, Anna Clark and Mariam Elba. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive our biggest stories as soon as they’re published.. Expecting parents want to do the right thing. When the doctor suggests a prenatal screening test, many say yes. Learning more about the baby-to-be seems like it has no downside.. But they often don’t realize these popular tests aren’t regulated by the U.S. Food and Drug Administration. This means that no federal agency makes sure that marketing claims are backed up by evidence before the tests reach patients. Even many health care providers find it hard to understand their nuances.. Testing companies told ProPublica that, even without the FDA, there is significant oversight over the screening tests. They said health care providers, who order them, should make sure patients understand what they can and cannot do.. That’s not always how it plays out. We published an investigation about this: “They Trusted Their Prenatal Test. They Didn’t Know the Industry is an Unregulated ‘Wild West’.” During our reporting, we heard from more than a thousand people in six countries, 47 states and Washington, D.C., about their experiences with noninvasive prenatal screening tests — often called NIPTs, or NIPS. Several reached out after reading our story.. We heard from a lot of people who were grateful for the screenings. They gave them peace of mind. But others told us they were left confused, frustrated and sometimes even shattered. We also heard that it can be difficult to find independent information about NIPTs.. This guide is meant to help fill the information gap. It includes basics on what the tests are, how to understand the results and even a glossary for the many confusing terms test-makers toss around. Our information is based on hundreds of conversations with parents, health care providers, researchers, genetic counselors and other experts. If you or your family is considering an NIPT, or you’re trying to understand your results, we hope this will help. We also encourage you to do your own research and consult with doctors or genetic counselors you trust.. Table of Contents. What is noninvasive prenatal genetic testing?. Understanding your NIPT results. Paying for an NIPT. NIPT glossary. Get in touch with our reporters. What is noninvasive prenatal genetic testing?. What are NIPTs?. Noninvasive prenatal tests, or NIPTs, screen for an array of rare genetic conditions. In most cases, the results will say that a genetic condition is unlikely. In some cases, they will flag a possible issue.. Here’s how it works: A health care provider takes a blood sample. They send it to a lab for analysis. The lab looks for cells from the placenta that float in your bloodstream. They can give a picture of the fetus’s development. The cells don’t come directly from the fetus — that’s why this is a screening test, not one that gives a more definitive diagnosis. The lab then lets you and/or your doctor know what the screening found.. You can get a screening as early as nine weeks into pregnancy.. Are NIPTs the same as NIPS?. Yes. Many health care organizations call them NIPS (noninvasive prenatal screening) instead of NIPT (noninvasive prenatal test).. There has long been concern about the name. Some experts say that calling it a “test” implies the results are more certain than they really are. In the industry’s early days, some even called it noninvasive prenatal diagnosis, or NIPD.. They’re also sometimes known as cell-free DNA screening tests, or cfDNA tests.. What do NIPTs test for?. NIPTs check for genetic conditions that can affect the health of the fetus. This includes trisomies, or extra chromosomes. The standard bundle of tests usually checks for these conditions:. Down syndrome, also known as trisomy 21. Edwards syndrome, also known as trisomy 18. Patau syndrome, also known as trisomy 13. It may also check for unexpected numbers of X or Y chromosomes — one or three, for example, instead of the usual two. These are called sex chromosome aneuploidies. They may be associated with certain health and developmental issues.. Companies may offer extra tests, too, which they often describe as “premium,” “plus” or “advanced” options. These tests screen for even more genetic conditions. But the American College of Obstetricians and Gynecologists, the leading professional society for OB-GYNs, doesn’t recommend that doctors offer them to patients. Also, as the New York Times reported, when the extra tests have a positive result, they are “usually wrong.”. NIPTs don’t screen for nongenetic conditions, such as heart defects. For younger people, nongenetic conditions may be more likely to affect their pregnancies.. Are NIPTs regulated?. NIPTs are not regulated by the FDA. No federal agency checks to make sure they work the way they claim before they’re sold to health care providers. The FDA doesn’t make sure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong.. Testing companies said that, even without the FDA, there is still significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, monitors quality standards. It does not, however, check whether the tests the labs perform are clinically valid.. You can read more about this in our investigation about the prenatal testing industry.. Are NIPTs the “gender reveal” test?. Yes. Hundreds of women told us that this early chance to learn the likely fetal sex was the main reason they got screenings.. Experts emphasize that NIPTs should be treated primarily as a genetic screening test, rather than as a way to learn the likely sex early.. It’s rare, but there is a small possibility that the tests will predict the sex incorrectly.. What if I want an NIPT, but don’t want to learn the sex?. Let your doctor know. Testing companies can deliver results in a way that doesn’t disclose the sex. Know that if the screening is positive for some conditions, such as Turner syndrome, it may reveal the sex by default.. Are there other prenatal screening options besides NIPT?. Yes. ACOG and the Society for Maternal-Fetal Medicine, the leading professional societies for doctors who handle pregnancies, wrote about the different prenatal screening options in their guidance on NIPTs. Each test has benefits and limitations. It said that health care providers should discuss NIPTs, along with other screening and testing options, with expectant parents. Counseling can help you decide what to choose.. ACOG also has a FAQ about screening options.. How are NIPTs different from carrier screenings?. Carrier screenings calculate the chances that a person could pass an inherited condition on to their future child. They analyze a blood or tissue sample from one or both prospective parents to learn about their genetic makeup.. NIPTs, on the other hand, use a blood sample from the pregnant parent to analyze cells from the placenta and learn more about the possible genetic condition of the fetus.. I’m not sure if I should get an NIPT. How do I decide?. Deciding whether to get an NIPT depends on your personal situation. Your age, your health and how far along you are in pregnancy are all important considerations, as are your concerns, values and questions.. Your health care providers and, ideally, a genetic counselor can help you decide if an NIPT is a good choice for you. To think through the benefits and limits, you might want to check out these resources:. ACOG’s guidance on NIPTs. ACOG’s FAQ on prenatal genetic screening tests. The FDA’s safety communication on NIPTs. The Genetic Support Foundation’s Pregnancy 101 guide. The r/NIPT Reddit community. Also, in the next section of this guide, you’ll see more information on factors that affect the performance of the screenings.. Katie Stoll, executive director of the nonprofit Genetic Support Foundation, said it’s important to weigh what information from a screening will mean for you. She suggested reflecting on the following questions:. How would you feel if results indicated a higher chance for a genetic condition or birth defect?. Would you consider a diagnostic test, such as amniocentesis, if the NIPT indicated an increased chance for a genetic condition? — If not, would you be okay waiting until the baby is born to know for sure if the condition is present?. Do you think this information would help you feel more prepared?. Does more information that comes with the possibility of uncertainty make you anxious?. Rachel Ray, 36, of Binghamton, New York, said it’s also important to have honest conversations with your partner or loved ones.. “No one expects the results to come back positive, or worse, false positive,” said Ray, who had the test in 2019. For those who haven’t had these conversations ahead of time, she said, “this kind of result could cause a huge ripple effect on a relationship.”. We heard from many people who were happy they got these tests. They said that it was helpful for making decisions about pregnancy and future parenting.. Others said their experience of the tests was traumatic. Alexis Reprogle, 28, from Fort Wayne, Indiana, had an NIPT that came back with inconclusive results. When she got a second screening, she said, it was positive for trisomy 18. But further testing showed that it was a false positive. Her daughter, now 2, has no unusual genetic conditions. “I wish I never would have taken the test,” said Reprogle. “It caused so much stress and the need to go back and forth with the insurance company over costs.”. Still others said their decision about the screenings is affected by state laws that ban abortions or restrict them to early in pregnancy.. In many states, abortion bans start before you will be able to confirm the screening results with a diagnostic test. In some places, they become restricted before you can even get the screening.. To stay up to date on the policies affecting you, The New York Times is tracking the current legal status of abortion in all 50 states and Washington, D.C.. What happens if I say no to the NIPT?. You have a right to say no to testing, said Mary-Nevaire Marsh, 34, of Atlanta. In 2020, she had a false positive for trisomy 18.. “It is meant to be a conversation,” Marsh said. Doctors “are an expert in their field, and you should be going to them for advice and counsel, but ultimately, the decision is completely in your hands and yours alone.”. If you’re anxious about this conversation, Marsh suggested bringing someone you trust with you.. “Bring a buddy or a partner with you if you feel like you’re going to need someone to help back you up,” she said. If doctors aren’t accepting your decision, she said, “say, ‘Let’s table it. We’ll talk about it next time.’”. “Another really good question to ask is ‘If we don’t do this, what other options are there?’” Marsh added.. Understanding your NIPT results. How accurate are NIPTs?. It depends. NIPTs are often quite good at identifying Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18), especially for older parents who are more likely to have pregnancies affected by these conditions. They are less likely to correctly predict Patau syndrome (trisomy 13).. Test performance drops with the optional extra screenings that look for rarer conditions. The New York Times wrote about this: “When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong.”. What other factors affect the NIPT results?. A number of factors can affect the performance of NIPTs, though companies sometimes sidestep this in their promotional materials. Readers and experts told us that health care providers, too, may not be clear about it.. These factors may include:. Your age. Your body mass index (BMI). Gestational age (how far along you are in the pregnancy). Your race and ethnicity. Pregnancy by in vitro fertilization. Twin pregnancies or vanishing twins. If you have been the recipient of an organ transplant. Rachel Ray said her providers failed to mention that her weight could affect the performance of her screening. In 2019, she had a false positive for trisomy 18.. “If I had been informed that higher BMIs have a significant impact on the reliability of the NIPT, I would have still taken the test, but I would not have experienced nearly the amount of stress I did,” said Ray.. She’s opting to skip an NIPT for her current pregnancy in favor of other screening tests. “I have declined because I do not want to experience what I experienced the first time, as I am still obese,” Ray said. “So far this pregnancy has been healthy and uneventful.”. How do I read my NIPT results?. After you have an NIPT done, it can take a week or two to get your results. Companies report results differently. Some describe conditions as “positive” or “negative.” At least one company describes them as “high-risk” or “low-risk,” which, it said, is meant to reinforce that NIPT is screening and not diagnostic.. A positive or high-risk NIPT result means there may be a higher possibility that the fetus has a genetic condition. This can affect its health and development. A negative or low-risk result means a genetic condition may be less likely.. To confirm your results — or if you simply want to go straight for a more comprehensive testing option — you may want an amniocentesis or chorionic villus sampling, or CVS, test.. In some cases, there will not be enough information in the blood sample from your NIPT to report results. It may read as “inconclusive,” “no call” or “no result.” In general, inconclusive results suggest a heightened risk of the fetus being affected by a genetic condition.. If this happens, you can consult with your doctor about doing the screening again, or getting a diagnostic test.. I got a positive result! What should I do?. While you’re probably feeling a lot of fear, please remember the information is not definitive.. “It is important to remember that NIPT results, just like other screening results, do not give a ‘yes’ or ‘no’ answer to whether a pregnancy has a chromosome condition,” said Stoll of the Genetic Support Foundation.. Your health care providers should talk to you about diagnostic options for confirming or refuting the results. They may also refer you to a maternal-fetal medicine specialist. Your second trimester scans, instructions from your doctors and further testing can all help you learn more about your pregnancy.. You also may want to talk with a genetic counselor who can help you understand your NIPT results and think through their implications.. In some cases, a positive result may have implications for your own health. “This, too, can be discussed with your provider,” Stoll said.. Also, know you are not alone. The people we talked to say the weeks or months in between the screening and finding out for sure if it’s a true positive can be filled with anxiety.. “Find somebody who you can talk to who can just listen,” said Daniela Weiss-Bronstein, 43, of Westhampton Beach, New York. She appreciated how one friend put it to her: “Tell me all the things that are in your head that you can’t say.”. In 2015, Weiss-Bronstein was expecting her fourth child when an NIPT came back positive for Down syndrome. For her, dear friends and the Down Syndrome Diagnosis Network were the most supportive outlets as she struggled with her feelings about the result.. Mary-Nevaire Marsh recommends taking time to process, even when some decisions need to be made soon.“You do have time,” she said. It’s important to think through your options and “decide what really feels like the right thing for you and your baby and your family.”. If follow-up testing shows it to be a true positive, this will likely affect your birthing plans. Some people told us they decided to end their pregnancies after a diagnosis. Others adjusted their medical care and parenting expectations.. Weiss-Bronstein chose not to get a diagnostic test after her positive NIPT. She supports abortion rights, but she knew she wouldn’t end her pregnancy even if an amnio confirmed the presence of Down syndrome. To her, it seemed like an unnecessary risk to add to an already complicated pregnancy. It wasn’t until the day her son was born that she and her husband found out it was a true positive, an experience she and a friend chronicled in a comic.. For those who receive a positive test for Down syndrome, Weiss-Bronstein said she wishes there was more awareness about how modern interventions and support systems have improved life outcomes for people who have the condition.. I got a negative result! What should I do?. Many people said that a negative NIPT result is a huge relief. They told us that it gave them peace of mind during their pregnancies. True negatives are the most common outcome of the screening tests.. False negatives are extremely rare — far more rare than false positives or inconclusive results — but they do happen, as we reported in our investigation.. Second trimester scans and diagnostic testing can provide additional information about nongenetic conditions that may affect your pregnancy. Reader V.G. had a negative NIPT in 2019 and declined a CVS test. But she decided to have an amniocentesis to confirm the screening. Between the amnio and the NIPT, she felt reassured that all was well. (For privacy, she asked not to be identified with her full name.). For her, it was a very positive experience.. I got an inconclusive, or “no-call” result! What does this mean?. This happens when a lab is unable to provide information about the conditions it screened. There are many possible explanations for this, Stoll said, “and sometimes we are never really able to determine the reason.” It may be that the blood sample contained too low a percentage of DNA from the placenta. This is called “low fetal fraction.” Or it could be a problem with the shipping of the sample, Stoll said.. In general, an inconclusive result can signal a higher likelihood of a chromosomal condition. But it may not. Your health care provider may recommend a redraw of the blood sample for another NIPT, or a diagnostic test.. Alexis Reprogle in Indiana, who had a second NIPT after her first was inconclusive, said it’s sometimes helpful to wait to do further testing.. “Most of the time you will have your blood drawn again for a second test,” she said. “If you are feeling overwhelmed with anxiety over the entire process, you can always back out of the second test. You may have the option to wait a few more weeks, as this could provide a more accurate reading.”. How can I confirm my NIPT results?. Diagnostic tests, such as amniocentesis and CVS, offer the most definitive and comprehensive information about the health of the fetus. An “amnio” is a test that analyzes a small amount of amniotic fluid from the area around the fetus. CVS analyzes a small piece of tissue from the placenta.. Both are considered invasive tests, with a small risk to the pregnancy, though experts say it is extremely low.. I want more advice and guidance. Where can I find genetic counseling?. Genetic counselors are trained professionals who can help you understand the tests, think through their results and, potentially, prepare for a pregnancy affected by a genetic condition. ACOG’s guidance on prenatal screening recommends both pre-test and post-test counseling.. Some testing companies offer patients genetic counseling services with their on-staff experts. They typically offer these at no additional charge and some people said they received helpful guidance. But several experts we spoke to emphasized the value of genetic counselors who aren’t employed by labs. That way, you can be confident there are no conflicts of interest. Independent counseling may be more expensive, though.. A good place to start is talking with your health care provider about a referral to a genetic counselor in your area. The Genetic Support Foundation in Olympia, Washington, is one source for independent guidance on a range of genetic health decisions, including pregnancy. It offers telehealth appointments. (Stoll, GSF’s executive director, was a source for this guide.). The National Society of Genetic Counselors offers a directory of in-person and telehealth options in Canada and in the United States.. Adriana Ludé, 36, of Oakland, California, enlisted a geneticist after she received an inconclusive result. She said it’s important to find a good communicator, not just someone with technical qualifications.. “Having someone who is able to explain it in simple words our overwrought and emotional brains could understand was huge,” Ludé said.. Weiss-Bronstein said those with positive results might also want to consult with a developmental pediatrician’s office. There can be waitlists, she said, but if you can get in the office, it gives you a chance to talk to someone who works with kids with these genetic conditions in real life. It’s a chance to ask, as she put it: “Not pie in the sky, and not doom and gloom, what does this actually look like?”. Speech and physical therapists who work with kids with these conditions can be helpful too, she said.. Paying for an NIPT. How much do NIPTs cost?. In our reporting, we heard about bills that ranged from a few hundred to many thousands of dollars, even for people who said they had good health insurance. We also heard from people who had the test covered completely by their insurance, or paid low-cost rates offered by the NIPT companies.. Stoll suggested asking your doctor for details about:. Which lab your testing will be sent to. Which conditions the test screens for. Which CPT codes will be used to bill for this test. Then, she said, you can follow up directly with your insurance company “to learn about coverage for the specific lab and codes being used.”. Patients give this advice:. Let your doctor know if you have limited funds. The practice may be able to budget for your care, or your doctor may be able to share information about financial assistance options.. Keep detailed records of your communication with the testing companies, your doctor and insurance company. Arbitrary billing was among the most common complaints we heard. Confusing pricing often led patients to make multiple phone calls to the labs and their insurers to get clarity on their responsibility for the cost.. NIPT Glossary. Aneuploidy: Broad term for conditions that involve an unusual number of chromosomes. (Most people have 46.). Chromosomes: Thread-like structures in our cells that are made of our DNA. Together, they make a blueprint for our unique physical characteristics.. Fetal fraction: Percentage of DNA in the sample of the maternal blood that is from the placenta. If the fetal fraction is too low, it can result in an inconclusive, or “no call,” result.. False negative: When a screening shows a negative or low-risk result for a certain condition, but it turns out the condition is actually present.. False positive: When a screening shows a positive or high-risk result for a certain condition, but it turns out the condition is actually not present.. Karyotype: An individual’s complete set of chromosomes.. Prevalence: How common, or “prevalent,” a condition is in a certain group of people.. Positive Predictive Value, or PPV: The likelihood that a positive or high-risk screening result will prove to be true. If you get a positive result for a certain condition, this is an important indicator of how likely it is that the fetus actually has it.. Different genetic conditions have different PPVs. You can use an online calculator to estimate more personalized PPVs for certain conditions.. Microdeletion: A missing fragment of a chromosome, which can cause a number of rare genetic conditions, such as DiGeorge syndrome or Prader-Willi syndrome. Many testing companies offer optional extra screenings for microdeletions, as well as additional trisomies. But ACOG does not recommend them.. Monosomy: Term for having only one chromosome (“mono”) where there would usually be a pair.. Mosaic, or Mosaicism: When different cells have different numbers of chromosomes in them. Some cells might have the usual 46 chromosomes, but other cells might have 47 chromosomes. This can result in health issues. Mosaicism may also mean there’s a difference between the cells in the placenta — which is what an NIPT analyzes — and the cells in the fetus. This can lead to false positives or false negatives.. Negative Predictive Value, or NPV: The likelihood that a negative or low-risk screening result will prove to be true. If you get a negative result for a certain condition, this is an important indicator of how likely it is that the fetus is actually unaffected by it.. Different genetic conditions have different NPVs. You can use an online calculator to estimate more personalized NPVs for certain conditions.. Sensitivity: The proportion of those who have the condition who are correctly identified by the test. It is the “detection rate.”. Specificity: The proportion of those who do not have the condition who are correctly identified by the test.. Soft markers: Features detected in the fetus that aren’t necessarily related to a genetic condition but can be correlated with one. For example, shortened long bones in the arm and leg may be associated with Down syndrome.. Trisomy: Term for conditions with an extra third (“tri”) chromosome alongside one of the usual pairs of chromosomes. Down syndrome, for example, is known as trisomy 21 because it’s a condition involving three copies of the 21st chromosome.. True Negative: When a screening has a negative or low-risk result for a certain condition and it turns out the condition is indeed not present.. True Positive: When a screening has a positive or high-risk result for a certain condition and it turns out the condition is indeed present.. Have You Had an Experience With Prenatal Genetic Testing? We’d Like to Hear About It — and See the Bill.. Sophia Kovatch contributed research.
Author: Amaury Abreu
