Materni21, Harmony, Verifi, and Panorama: Myths and Realities

Some relatively new tests promise to find Down syndrome and other chromosomal conditions very early in pregnancy.  They are called Noninvasive Prenatal Screens (NIPS), and have been hailed as the “holy grail” of prenatal tests. Just weeks after a fetus’s heartbeat is audible by doppler, the mother can have her blood drawn to look at something called cell-free fetal DNA. In a now-billion dollar industry, Sequenom (Materni21), Ariosa (Harmony), Natera (Panorama) and Verifi all offer NIPS, promising unprecedented accuracy, better information, and general reassurance. The website for the Materni21 test boasts that the product offers “No confusion. Just simple, clear results.”

A 2012 article in the Atlantic began with this explanation:

“Prenatal diagnosis — the ability to diagnose abnormalities before a baby is born — is undergoing a revolution due to the recent arrival of tests that can accurately detect fetal genetic abnormalities, including Down syndrome, by testing the mother’s blood.”

When I became pregnant again–already having a child with Trisomy 21–I seriously considered this new technology, wondering what it would mean for me to have another baby with a genetic difference.  It could mean quite a bit or very little, but at a minimum, getting a definitive diagnosis might change my prenatal care decisions.

When I researched these tests, however, I was shocked at what I found.  The idea that NIPS are an amazingly accurate diagnostic tool is simply not true.  The reality, I found, is a very troubling mix of public and medical misunderstanding, which may well be rooted, at bottom, in pharmaceutical companies looking to maximize profit by mainstreaming their products.

Myth #1: NIPS is great because it is noninvasive way to get a diagnosis.

Reality: NIPS is called NIPS because it is just that: a screen.  (Read the ACMG guidelines here.)  The number of false positives and negatives does not make it a reliable diagnostic tool.  The current ACOG guidelines recommend that NIPS be followed up with a diagnostic test, either chorionic villus sampling (CVS), or amniocentesis. Both of those tests are invasive and carry a risk of miscarriage. In reality, there is no foolproof way to know whether your baby has a trisomy. Amniocentesis and CVS are very, very reliable. Still, mistakes happen.  Bottom line: NIPS can only give you a statistical likelihood that your unborn child carries a limited list of genetic conditions.

Myth #2: NIPS is amazingly accurate.

Reality: NIPS seem to be good at ruling out the existence of a genetic condition, but “positive” tests are more complicated.  NIPS accuracy rates really refer to the tests’ statistical sensitivity, which is not what most of us think of when hearing the word “accuracy”. An individual’s chance of truly having a condition after a “positive” result (also called the Positive Predictive Value, or PPV) depends on the incidence in the population at large.

Here is an imaginary example.  If a test is 95% accurate at predicting redheads prenatally, how does one know the actual chance of being a readhead after testing positive?  Not 95%.  One has to know how many redheads there are in general.  Say 10% of population of country X has red hair, and we test 200 mothers there.  Then we know that 20 fetuses truly have red hair.  A 95% accurate test will find 19 of those redheaded babies, and miss one.  It will also incorrectly identify 5% of the remaining 180 as having red hair when they actually do not—9 babies.  The positive test result group is then made out of 19 truly redheaded babies and 9 not redheaded babies.  Any individual baby’s real chance after a positive result (or PPV) of having red hair is really 19/28, or 67%.

Do this again with brunette babies in the same country, with an incidence rate of 40%—80 babies with brunette hair.  76 will test positive, 4 missed.  Of the remaining 120 babies, 6 will be incorrectly identified.  The chance of a baby who tested positive as a brunette is then 76/82, or 92%.  When the incidence rate in the general population goes up, the PPV goes up.

Now, say that one in 1,500 babies in country X have purple hair.  Do the math for a 95% accurate test, and you get a PPV of something like 1.25%.  That means a mother who tests “positive” for her baby to have purple hair, in this scenario, actually only has a 1.25% chance of delivering a baby with purple hair.  When the incidence rate is already low, the PPV is lower.

Same test accuracy rate in each scenario, but very different PPV, because the reality of a “positive” test result depends on how often a condition actually occurs in a given population.  (I know, I’m sorry your head hurts, mine did too.)

What does this mean?  Unless a mother is already at high likelihood, looking for conditions like aneuploidy (like Down syndrome) or Turner’s syndrome is a lot like trying to find babies with purple hair.  NIPS tells us what we already know: Most women are not carrying a baby affected by these genetic conditions.  When you’re looking at a condition that only 1 in thousands have, the PPV of NIPS is quite a bit less impressive than the test companies would have us believe.  Depending on a woman’s age, a “positive” NIPS result could mean the chances of actually having a baby with Down syndrome could be 50% less. Mark Leach at his blog Down Syndrome Prenatal Testing offers a very good explanation of the statistics in this post.  Here is another more general article aimed at explaining the confusing statistics behind medical tests and screens.

Myth #3: My doctor recommends it and understands NIPS better than I do.

Reality: It turns out that doctors, just like the rest of us, are actually not very good at understanding the nuances of statistics.  In one study, just 14 out of 61 doctors, hospital staff and medical students could correctly answer a hypothetical statistics question.  Certainly, it doesn’t appear that the companies offering NIPS tests are running out to disabuse confused medical professionals of the idea that their tests are not as “accurate” as they seem.  Do your own research.

Myth #4: NIPS will analyze the baby’s DNA.

Reality: Actually, the test runs on small fragments of placental DNA in the mother’s bloodstream. In most situations, the fetus and placenta share identical DNA. However rare, placental mosaicism does occur. In that case, a woman could get an incorrect NIPS result. Her placenta may carry a trisomy while the actual baby does not, or vice versa.

Myth #5: NIPS can tell you if you are going to have a healthy baby.

Reality: NIPS can tell you absolutely nothing about the health of your baby. Trisomy 21, for example, results in medical issues for some, and absolutely none for others. In addition, NIPS tells us nothing about the myriad other conditions that a fetus can carry but remain undetected until birth or after.

Myth #6: My test result came back “positive” so it must be correct.

Reality: Materni21 terms its results “positive”, “negative”, or “additional” findings, but in reality, these words appear to be more than a branding tool than medical terminology, akin to how Starbucks calls its smallest drink a “tall” to give the impression of value. Because there is no such thing as a “positive” NIPS result, the use of the word “positive” is actually fairly misleading. See Myth #2.

Fundamentally, I do think that these tests stir up some very serious ethical issues about disability, as well as how our society views pregnancy and birth. Plainly, this technology begs the question: Who gets welcomed into our society, and who must undergo “screening” before even drawing a single breath?  Yet, this is the reality of all prenatal testing.

My concern is the power of perception to recreate reality.  If these companies are allowed to perpetuate these myths with impunity, then I fear they will become the foundation for actual practice.  Perhaps my fear is already reality.  How many women have chosen abortion after a NIPS result, who would not have if they had truly understood the statistics?  How many women misunderstood these statistics and go through needless anxiety and worry because they’ve had to prepare for a reality that never came to pass?  NIPS is very good at “reassuring” mothers that their babies are genetically typical, but does that come at a cost?  With every “negative” test, how much stigma compounds against those who actually live with those genetic differences?

Even within the disability community, we seem to have bought the pharmaceutical companies’ advertising ploys, hook, line and sinker. I worry that by perpetuating the companies’ marketing ploys, we are inadvertently creating more room for ethical lapse.  The tests are here for good—there is no closing that box, and I see no point in arguing that.  We might as well help families get accurate information and strive to point out the inherent anti-disability bias so prevalent in today’s prenatal care practices.

Is NIPS an advancement?  For a woman who wants to test for those specific conditions, I do think that NIPS has value over traditional screenings.  Is NIPS revolutionary?  Only if we pretend it is.


ETA 9/22/2015:

This is my most popular blog post, by far. I want to ask that everyone to have the most sensitivity and grace as possible when commenting. It is often difficult for those who have had true positives to hear the sense of rejoicing that comes with false positive results. Praying for health or a false negative, while completely understandable, does not make the correlate true: having a baby with health concerns or a positive diagnosis does NOT mean that your prayers have gone unanswered. I want the comment section here to be a safe place and to assure families getting diagnosis that life will still be beautiful and worthwhile and that support is out there. Concepts such as “health” and “perfection” are socially influenced and variable; there is no one right way to come into this world. xo


If you have had a negative NIPS experience, or feel that NIPS was incorrectly or misleadingly explained by the company’s marketing material, you can report it here.  Prenatal tests fall under the “medical device” category.

Here is a very clear article from Katie Stoll, genetic counselor, explaining the specific statistical issues behind NIPS.

Lettercase offers up-to-date information and materials on prenatal screening and testing for families and medical providers.

Mark Leach is a bioethicist who writes frequently about NIPS on his blog.

If you have found this post after getting a “positive” result for Down syndrome in particular, you can go to the Down Syndrome Diagnosis Network (DSDN) for accurate information and support.

If you have found this post after a Harmony, Verifi, or Materni21 test and are confused, feel free to comment or email.  I will try to send you to the appropriate resources.

169 Comments on “Materni21, Harmony, Verifi, and Panorama: Myths and Realities”

  1. Lori says:

    Thank you for sussing out the tests. I wish this entry in your blog could be handed out in Ob-Gyn offices. Kudos for doing all the research (with three kids running around, no less!). Thanks also for pointing out the “healthy” issue. My Katie has trisomy 21 but has been even “healthier” than her neuro-typical sibling (fewer colds, better skin, etc.).

    • jisun says:

      Thank you Lori!

      • Ashley says:

        Hi, I was wondering if you knew anything about the accuracy in the wolf hirschhorn syndrome, with the nipt test. I received news that my babyboy may have the syndrome, there were two other cases found and both were wrong, those women chose to do amnio, me and my fiance have decided not too, due to the risk, I am very stressed and confused. His ultrasound has never looked bad and hes not behind in growth, thank you for your time.

      • Ashley says:

        Also my test was a “Baylor kit” I believe it was an Illumina test. But it was also a non ivasive prenatal test… blood work.

      • Ashley says:

        Did you receive my email

  2. Because I don’t love you enough? Wow. Nice job! Thanks for this!

  3. I really wanted to ask you if you had “testing” with this next little one, and here… It doesn’t matter if you did or did not because you just made a MAJOR contribution to all mums in society far and wide with this excellent post. Well done, friend! Well done! And THANK YOU for doing it!

  4. Lisa says:

    Excellent post, Jisun.

  5. Mary says:

    Reality – NIPT’s prevent miscarriage due to unnecessary amniocentesis procedures. That’s the entire point of these tests that you fail to mention. Amniocentesis tests are down greatly because of these tests saving hundreds of healthy babies as the risk of miscarriage is between 1 in 300 and 1 in 500. Now if you are against these tests because people will want to abort if they are positive that is a different discussion which should be left to the family and their doctor. These tests are highly accurate but aren’t 100%. Nothing is. That’s why the companies state if it’s positive it should be confirmed with amniocentesis or CVS.

    • jisun says:

      I did say that I think that NIPS has benefits over the traditional testing options, and fewer amnios/CVS is absolutely one benefit. But your emphasis that the tests are important for healthy babies makes me wonder if you missed my point about NIPS not actually being a great indicator of health. I also would point out that my point with the difference between statistical “accuracy” and that word’s every day use is that a positive isn’t actually a positive simply to be confirmed. I’m not against the tests, I simply want people to understand what they actually are before they make prenatal care choices.

      • Mary says:

        “healthy babies” meaning not having any chromosomal abnormalities (T21, T18, T13). Of course they can’t tell you the overall health of your baby nor do they say that is what they do. And you state these companies are perpetuating these “myths” as you say. How exactly? They don’t say its a diagnostic test, provide clinical data on accuracy, do not claim to tell you the baby is healthy, nor state a positive is 100% accurate (if positive it should be confirmed with Amino/CVS), and they provide genetic counselors. It’s like you make it seem like oh I got a positive and off to the abortion clinic I go, that’s just silly. I get the feeling you think these companies are “tricking” their customers for something that isn’t needed. Do they make money off these test, of course welcome to America’s healthcare industry.

        • Megan says:

          My son has T21 and is very healthy. Down syndrome is not a disease. I was fortunate to have a supportive genetic counselor who approached our diagnosis with positive information after our NIPT results, but most women are not so lucky. Most women are pressured to terminate. And while I am pregnant again and will take these tests for information regarding this child (that preparation was incredibly helpful last time), I truly believe many medical professionals see these tests as the end of Down syndrome. And they’re not all terribly sad about it.

        • Kelley says:

          Mary, I see your point and yes, using these tests before going straight to amnio/CVS is a chance to reduce risk of loss by miscarriage. I think the issue it feels like you are missing though is that these companies are pushing very hard the idea that they are diagnostic tests and not simply (better than was previously available) screens. I think it’s great we now have more options but it doesn’t mean we shouldn’t push for more clarity on what tests can and cannot be trusted to do.
          The companies call themselves NIPT (non-invasive prenatal TESTING) when in reality they are, as explained above, NIPS (non invasive prenatal SCREENING). ACOG has put out position papers saying, “no, these aren’t tests, just screens” but these companies have not backed off the misinformation in their marketing.

          And that is a disservice to us as mothers, families, and consumers.

        • Kavita says:

          Sadly, not everyone is confirming with cvs/amnio and are terminating just based on the results of the screening because they are convinced of their supposed ‘accuracy’.

          And though there may be less invasive texting being done because of the number of ‘negatives’ being predicted, there are more amnio’s

        • Kavita says:

          Sadly, not everyone is confirming with cvs/amnio and are terminating just based on the results of the screening because they are convinced of their supposed ‘accuracy’.

          And though there may be less invasive texting being done because of the number of ‘negatives’ being predicted, there are more cvs/amnio’s due to the high number of false positives.

    • Vera says:

      I WOULD NOT do amnio, before I took this Verifi test. Check how many false positive and how many women were forced to do amnio because of false positive results. So, NIPT tests actually provide an opposite effect. They FORCE to do amnio. Verifi forces me.

      • jisun says:

        I’m so sorry this has been so stressful for you, Vera. It does seem that for Turner’s the blood tests could very well cause more amnio/CVS choices than fewer. Very frustrating.

        • Vera says:

          My FISH (preliminary) results came back today and they are all good! XX !!! I’m waiting for full panel results now. I regret so much that I agreed to do this Verifi…

          • jisun says:

            Vera I hope the rest of your pregnancy is uneventful and boring! I just want to say in case you didn’t notice, at the end of this post there a place you can report your experience of you feel that the test was misleadingly or inaccurately presented to you. All the best, mama.

  6. Alexis says:

    Thank you for this post. I’d like to share my Panorama experience:

    Two weeks ago I did the Panorama test and I had no idea I could opt-out of a new portion of the test that looks for micro deletions of specific chromosomes, introduced in March 2014.

    After being flagged up as high-risk for a micro deletion I spoke with a genetic counselor from Natera (Panorama creator) and learned there is a 95% FALSE POSITIVE rate for the micro deletion portion of the test. I also learned that the Panorama test has not been validated in low-risk populations (that’s where I fall), and that micro deletion testing is entirely internally validated–has not stood up to rigorous scrutiny by their peers.

    Natera refuses to publish their sample size and positive predictor value for the micro deletion tests. Instead they hide behind the numbers they are more proud of.

    My decision to take the Panorama test was entirely to learn the sex of the baby early–I’m a first-time mom and super excited and eager for this child–it was an easy sell. Had I known the anxiety the test results would cause and the insanely high false-positive rate I would have never consented.

    I have since had a CVS procedure and I am anxiously awaiting the results and praying for no complications from the procedure.

    My hope is that other women will do research before consenting to the micro deletion portion of Panorama, remembering that they can opt-out. I feel like I was used as a guinea pig in their experiment.

    • jisun says:

      Alexis, as much as I hate that this was your experience, I’m so glad you shared it. Yes, this is exactly the statistical phenomenon that I’ve come to understand about NIPS, yet I see very little acknowledgment of these very real limitations.

      My understanding is the same as yours–the companies will not release all of their statistics. One has to wonder why.

      I hope you are able to find some peace despite what has happened, the beginning of pregnancy is already hard enough! All the best to you.

      • Alexis says:

        Thank you for that. I agree, the first part of pregnancy is hard enough.

        Just wanted to update that the CVS microarray results are in and the Panorama was indeed a FALSE POSITIVE for microdeletion 22q11, also known as DiGeorge syndrome.

        The genetic counselor with the CVS office said that she will be reporting the results to Panorama (Natera) and “yelling at them.”

        How do you even release a test to the public that has a 95% false positive rate? How is that even ethical? They claim to lower miscarriages by reducing invasive diagnostic procedures. In fact that is not true with the microdeletions–I imagine there will be *more* invasive procedures due to the amount of false positives for microdeletions such as 22q11.

        Thanks for your efforts in informing women.

        • jisun says:

          I’m glad you’ve got your genetic counselor on your side! I’d really encourage you to report your experience, you’ll find a link at the end of the post. Congratulations on your pregnancy!

          • Alexis says:

            Thank you and congratulations to you too!! I’m a new reader but just got up to date on your great news :)

            I will be reporting. Thanks for the link!

            • Ramona w. says:

              I, too, recently underwent the Panorama test. I’m not sure if they have changed how the report the finds of suspected micro deletions, but the way it has been communicated to me is that I am high-risk for the 22q11 deletion which makes the odds that my baby is carrying this deletion 1 in 19 compared to the general population which is about 1 in 2,000. After speaking with a genetic counselor at the company that administers the test (by the way anyone can request a phone consult on their website or by calling either before deciding to do the test or after receiving results), she informed me that the odds are actually a little higher when you test high risk, probably somewhere closer to 1 in 11, and they will be publishing that data soon. She also answered every question I had and reminded me to focus on the greater than 90% chance my baby would be unaffected. I was in no way shape or form told I tested positive for the deletion, just that I was at a heightening risk. While I agree the stress of finding out the possibility is there has been hard to swallow, I would rather have a heads up to explore Drs etc before hand and be referred to MFM and a pediatric cardiologist, than know nothing until birth.

              • Lisa says:

                So are they changing the odds for everyone to 1:11? Or just if you’re considered high risk before you take the panorama test?

              • Alexis says:

                Hi there. I am a year removed now from testing high risk for 22q11 with Panorama and yet I still subscribe to the comments because I like to help others in any way I can from my experience and regret for an uninformed consent.

                That’s great you feel satisfaction with a heads up of a less that 10 % chance your baby has DiGeorge Syndrome, but for me that “heads up” influenced me to get further testing – invasive testing – because I felt I had to know for certain. The invasive CVS comes with risk of miscarriage and I firmly regret the uninformed choices (consenting to Panorama) that led me to the CVS.

                Without repeating all the details of our story (they are in the comments already), I was not a good candidate for Panorama as I had no other risk factors, I simply wanted to know the sex of my baby. I felt I was misled and falsely advertised to, and I will never consent to such testing again.

                I thank God that the CVS did not cause miscarriage and I’m rocking my baby girl now. Had I known the turmoil the Panorama test would cause I would have just been patient and not pressed to find out the sex of my baby so early. We live and learn.

        • Veronica says:

          Hello. I’m in the same situation my panorama came 1:19 for DiGeorge and I’m awaiting final results of Amnio test. PLEASE. CAN U TELL ME. WAS UR NEUCHAL TRANSLUCENCY TEST ABNORMAL and that is why u went for Amnio? If so what was the measurement? Mine is 5.8 and I’m beyond terrified of coming back with a 99%posiive for diGeorge. Thank you so much!

          • Veronica says:

            My email is Please reply 😢😢ASAP 😢😢

          • Alexis says:

            I’m sorry you’re going through this stressful time!! I remember how hard it was.

            I didn’t have the nuchal test done. I only had Panorama and the CVS microarray. The CVS confirmed negative for 22q11 Di George. I was petrified of miscarriage after the CVS (o had bleeding) but my daughter is napping on me now.

            Hugs to you, mama. Seek counseling if the stress gets too much.

    • Mardra says:

      Yes. This is what Mark Leach calls, “The Gradual Trap.” Hmm.
      In other news – Soooo, a boy or a girl?

    • Hi Alexis,
      Thank you for sharing your story. My name is Dr. Megan Allyse and my colleagues and I at the University of California, San Francisco and Duke University study the ethics of prenatal testing, especially non-invasive testing like Panorama. Your post was brought to our attention by one of the patient advocates we work with. We wondered whether you would be willing for us to include your story, anonymously, in a manuscript we are writing on concerns over the expansion of non-invasive testing into sub-chromosomal conditions (such as microdeletions). This manuscript is slated to be submitted for publication in the medical, academic literature and we feel that including your story would help to emphasize the very real, potential consequences of expanding testing panels indiscriminately. We would, of course, preserve your privacy and confidentiality.
      If you are willing for us to share your story anonymously, please let us know. My email is or If you like, you can also check out our website at

      • Alexis says:

        Hi Megan,

        YES!! A hundred times yes. I will email you today.

        As I type this I am still awaiting the results from our CVS / microarray. Currently 8 days past the procedure and still an emotional wreck.

        Thank you for contacting me. I do want others to be aware of the very complex emotional and physical risks. I’d be happy to share our story.

  7. Mardra says:

    Thank you for posting this. You Rock. As Usual.

  8. Jasmine says:

    I am so confused. I got a positive result for Monosomy X with the Verifi test but then I got a negative result (less than 1/10000 chance) with the Panorama test. I can’t get an amniocentesis bc I am already at a high risk for miscarriage bc I have a subchorionic hematoma. What would you make of my results?

    • jisun says:

      Jasmine, have you not been referred to a genetic counselor yet? I think part of how you might interpret your test results might have to do with age and other factors. I’d imagine that a triple/quad screen and ultrasound could offer some better clues as well, in the case of Turner’s syndrome (I’m not sure how far you are along in your pregnancy and if those are options). I’m not a medical professional, however, so I’d really urge you to talk to a genetic counselor. Don’t be afraid to ask for second opinions if you don’t feel like your questions are being answered! Best of luck to you.

  9. Erin says:

    I just received a phone this morning from my OB who stated my materni21 shows a possibility of Turner’s syndrome. I’m terrified and an emotional mess. He scheduled me for an Amnio in 3 1/2 weeks. I am wondering if you have information on the predictability of Turner’s with Materni21? My email address is, I’m desperate for any hopeful information you may have. Thank you for the article.

    • jisun says:

      Hi Erin! I just sent you an email but also wanted to respond here. First, I’d encourage you to ask for a referral to a genetic counselor. They should be able to walk you through whatever information is out there, your options for diagnosis, etc. I know that NIPS is best at predicting Down syndrome, and even that, as you read, is complicated. Lastly, I do know that as far as genetic conditions go, Turner’s syndrome has relatively mild effects on women, and many issues are treatable. If you don’t get my email, feel free to email me, kimchilatkes [ at ] gmail [ dot ] com. Big hugs!

    • Alexis says:

      Hi Erin,

      When I called Natera because of my high-risk results for DiGeorge Syndrome I spoke with the genetic counselor and asked specifically “What is the positive predictor value for ______ (you would name Turner’s) with your test?” I was able to get her to tell me that it was less than 5% meaning a 95% false-positive rate.

      When asking questions the counselor kept trying to steer me in another direction- wanted to tell me all about the syndrome in question rather than answering questions about the validity of the actual test (Panorama). I was persistent though and got my questions answered.

      Wishing you well. I know how hard it is to wait for answers. I had the CVS procedure and it proved Panorama was wrong. Good luck!!

      • Lori says:

        Hi, Alexis,

        I’m sorry to hear about what you went through.

        I just wanted to clarify something about the math terms.

        A positive predictive value answers the question: “If I received a positive test result, what is the chance that my baby really has this condition?”

        A false positive rate answers the question: “Of all the tests that were called positive, how many really had the condition?”

        Whenever a numerical risk is given (like “there’s a 1:19 chance the baby has Cri-du-chat”) versus something that sounds diagnostic (like “the baby has Down syndrome”), the idea of false positive results is not really applicable, because a 1:19 result means most likely the condition is not present.

        These are not the same thing, although they are easily confused. And I completely agree that these new tests are causing a lot of confusion among parents and doctors.


  10. Marina says:

    For those women that test positive for Turner Syndrome through NIPT, please follow the posts here . It shows just how many women are finding false positives with Turner Syndrome (me included). I called Verifi after my screen results were in and they do not publish their Positive Predictive Value for Turner syndrome and will merely spew back their sensitivity and specificity results which are not the same thing.

    • jisun says:

      Marina, I’m sorry it took me so long to respond to this, but I’m so glad you commented and I hope you report your experience to the FDA.

    • Vera says:

      I’m in the same boat! My 12weeks ultrasound was great, baby’s NT was good (1.69 mm), no abnormalities, etc.. I agreed to do the Verifi test an it came back positive for Turner Syndrome!!!! I’m scheduled for amnio next week… It’s SO MUCH STRESS on me and my family… and dr told me that this test is 99% accurate… WTH?

    • Vera says:

      and I have PhD in analytical chemistry. Nothing is 99% accurate…

  11. Ben says:

    Is this comment section still alive? I have some questions.

  12. Sharilyn says:

    I am so glad I found your post. Being over 35 we had nips testing that came back positive for trisomy 13 a few weeks ago, needless to say I have been an emotional mess, especially since we just had two miscarriages last year. I was told beforehand that there were NO false positive rates. I asked beforehand because we had put in two frozen embryos, had a high hcg like when we were pregnant with twins before, but at 6 weeks one had taken. When we were pregnant with twins before we lost one at ten weeks, but the other made it full term, and I was told not to do the quad testing because I would get a false positive. This new nips testing advertises that it has such a great sensitivity rate, yet when we met with a genetic counselor she said 251 women out of 10,000 tested positive in the nips testing, yet only 7 of those women had babies w trisomy 13. 92% false positive rate. I was so angry because of the false advertising of the accuracy of these tests, I have been combing the Internet and everything says how accurate the screening tests are, only the genetic counselor gave me some hope that my baby will not die, and seeing your post gives me even more hope that we will have a healthy baby. 16 weeks ultrasound everything looked perfect, 21 week ultrasound is coming up to check the baby again, because of my history of miscarriages I elected not to do an amniocentesis. I wish I would have never done the test because of all the emotional anxiety I have experienced. Gah! So glad you are putting this information out there for expecting mothers like me.

    • Alexis says:

      Big prayers to you on your pregnancy! It is truly criminal how these companies false advertise and mislead with their fake accuracy claims. My pregnancy was also from IVF and I know how cherished a pregnancy is after going through such intense treatment. I had a false positive for DiGeorge Syndrome only to learn there’s was a 95% inaccuracy rate for that portion of the test. The CVS procedure confirmed a false positive but then I feared miscarriage from the CVS. It’s emotional hell and I wish I would have known the facts before consenting to the Panorama test. Best of luck to you and your baby! Thanks for sharing your story.

      • Sharilyn says:

        Update, we had our baby three weeks ago with a nicu team on standby in the delivery room, and our baby boy does NOT have trisomy 13, we had a false positive. Worst 7 months of my life waiting to see if our baby would live since we elected not to do the amniocentesis. We are appreciating every moment with our little boy!

        • Alexis says:

          Congratulations on the birth of your son! I’m sorry your pregnancy was so stressful and glad you have your bundle of joy.

    • jisun says:

      Oh my goodness, I’m so sorry, all this stress is not what a mama needs when trying to grow a person in her body! Congratulations on your pregnancy and I hope the next ultrasound gives you some peace. xo

  13. Lauren says:

    Hi, it with angst that I am writing trying to hold into hope after we received a “high risk” for T21 result from a Harmony NIPS. I am 33, and this is my first pregnancy. We were shocked and devastated to hear that the likelihood of the test being wrong was < 0.1%. We had an ultrasound where two soft markers were indicated and so we chose to have a CVS since I was 11 weeks at the time and I couldn't bear the anxiety of not knowing and just stressing until I could so the amnio. I have been madly researching these NIPS and the positive predictive values. We were counseled in our appt that the chance of our test being a false positive was less than 1 in a 1000. I am now anxiously awaiting my CVS results, but the docs are all very confident that Harmony is very accurate and the cvs will be a confirmation. I am swinging on a pendulum of thinking maybe there will be a miracle and our cvs will be normal, to thinking I am being naive and should listen to the docs who were mentioned all of the positive screens have been confirmed with a Dx of T 21 by testing or at birth. I am driving myself crazy. Thank you so much for your posts that have helped me understand the statistics a little better!! I wish there was more info on how often the screening correctly predicts T21. I do wish I hadnt opted for the test. I was tempted to find out the gender early, but really wish I would have done 1st trimester screening and not opened Pandora's box.

    • jisun says:

      Hi Lauren, have you seen a genetic counselor yet, or are they maybe waiting to see what comes back on the CVS? I would really encourage you to read Mark Leach’s work at http://www.downsyndrome He’s a bioethicist who has written much more extensively about NIPS than I have, it might help you understand the NIPS results even better, as well as any CVS results. Can I help connect you to any support and resources? Please don’t hesitate to email me privately if you’d like, kimchilatkes [at] gmail [com] Big hugs to you, mama. I know this is probably not what you expected. xo

      • Lauren says:

        Thanks jisun! No genetics counselor, we just met with the clinical director of the High Risk pregnancy clinic right before our ultrasound / CVS.
        I would welcome resources! Thanks! I have been like a mad women researching and did come across Mark’s posts which are pretty unbelievable considering how we experienced these NIPS in practice ( I know that’s Marks point!)
        Thanks for the reply!! I will email you.

        • Naveen says:

          Hi Lauren, we are tested positive for Harmony T21. Please could you share the results of your CVS please. Hope it did go different to Harmony for you. Thank you. Nav

          • jisun says:

            Hi Naveen, please feel free to email me at kimchilatkes [at] gmail [dot] com, I’m sure you have concerns and questions, I would be happy to send you some resources and point you in the right direction.

  14. AC says:

    Lauren- I hope everything works out for you. The first trimester screen has a false positive of 5% so 1/20 women get a false positive. NIPS has a false positive of 1/200. There have been thousands of studies that show that 1st trimester and quad screen are very unreliable. The whole point of NIPS is just an improvement over 1st trimester and quad screens

  15. Gail says:

    I’ve just received a positive for trisomy 9 from the verifi test. This information has been great and giving me hope. Especially how rare this one is.
    If you have any information this one that would be great.

  16. RBdoc says:

    Hello, I tested high risk for cri-du-chat (5p microdeletion) with a 1:19 chance of my baby having it. Of course I’m a complete wreck. I am having cvs done tomorrow and am praying harder than I ever have in my life. Had I known that these tests are very inaccurate for detecting microdeletions I would’ve never allowed to be screened for them. My initial first trimester screen came back with a 1:149 risk of downs, that’s why I opted to do the cell free dna screen. I was very surprised to learn that my downs was negative but the extremely rare cri du chat came back high risk (wtf?)

    I am not going to give myself any false hope as I am mentally preparing myself for bad news, but I pray my cvs is normal and I can go on with my life.

    • Alexis says:

      Good luck on your CVS procedure! I hope all goes well and you can rest your mind soon.

      Was it the Panorama test you took? I ask because I was given the same odds, 1:19 chance for microdeletion 22q11, DiGeorge Syndrome. After speaking with a genetic counselor at Natera/Panorama I learned the 1:19 actually translated into a 95% false positive rate.

      I had the CVS microarray and learned it was indeed a false positive. Just wanted to share to help you in any way.

      Good luck!!

      • RBdoc says:

        Hi, I’m not exactly sure as I never asked, but if panorama is the only one which gives a risk ratio then I guess that’s the one I had. I was expecting either a positive or negative so I am not sure what to make of all this. This has been the worst time of my life dealing with this uncertainty and knowing I’m risking a miscarriage with cvs.

        I’m very glad yours was a false positive and I am desperately hoping for same outcome!

        • Alexis says:

          I’m still haunted by that period of my pregnancy. From week 10 when I took the Panorama test to week 14 when I finally got the CVS results were hands down the worst weeks of my life.

          It sounds like Panorama is the one you took. For microdeletions they give everyone that same ratio if you’re labeled as high risk. The reason they don’t say positive or negative is because it’s not diagnostic, it’s a probability screening. The company won’t reveal their microdeletion sample size, they operate in secret and they are almost entirely self regulated- the lack of transparency is frightening. I was, however, able to gather from the genetic counselor at Natera that the microdeletion portion of the test was only introduced in Spring 2014, which means the sample is small and we were used as guinea pigs.

          I had that same awful fear of miscarriage from the CVS. I did actually bleed and cramp about a week after the procedure, but my baby is fine and I’m 34 weeks now.

          I wish you all the best!

          • RBdoc says:

            Thank you so much for sharing this information. I can’t believe they just throw that ratio at everyone who is supposedly “high risk”. I will NEVER get this screen again if I ever get pregnant again.

            • jisun says:

              RBdoc, there is a link in the bottom of this post to report your experience if you feel that the test was falsely advertised to you. I hope you’ll consider reporting your experience. All the best to you, I hope you find peace no matter what the outcome. Big hugs. xo

  17. RBdoc says:

    Thank you for your well wishes. I just had cvs today and procedure wasn’t bad. I will get my results sometime next week. Hope I can find some peace during this time of waiting. The genetic counselor was also confused as to what my panorama results actually meant and called panorama. They couldn’t even fully answer her questions as to what the cut off is to be considered “high risk”. She said that at her intuition they don’t even check for microdeletions unless there is a family history. All panorama could say was my risk is 5 percent (thanks, I know how to do math). I’m incredibly frustrated with the lack of knowledge that comes with this portion of the test and all the “I don’t knows” I’m getting.
    Again, not trying to give myself false hope

  18. Alyssa Kent says:

    Thank you for this post. It was informative and comforting as I was living through the angst of a “positive” screening back in January. I was surprised to learn that I was even screened for the micro-deletion portion of the Natera testing and certainly did not know that there was an opt out. My results came back with a 1:19 risk factor for cri du chat (5pminus syndrome). Due to the complexity of my obstetrics history – previous delivery at 25 weeks, classical c-section, and placement of a permanent transabdominal cerrclage- there was quite a bit of panic from everyone in terms of how to move forward with further testing and what to do with those results. We were relieved when our CVS results came back with all the pieces of chromosome 5 present as well as all of the other chromosomes, however our eyes are forever opened to the complexity – medical and ethical- of prenatal testing. The process was frustrating, angering and heartbreaking. I will be following up with my experience as you recommended.

  19. RBdoc says:

    Reading these stories is the only thing getting me through this tough time. I’m still awaiting cvs results (has been 6 days). Hopefully I find out soon! This waiting is torturing me.

  20. RBdoc says:

    I guess I can join the false positive club!!!!!!! Praise the good lord!!!!! God is good

    • jisun says:

      Hi, I’m so happy for the relief you must be feeling. I just want to say as gently as possible that it is often difficult for those who have had true positives to hear the sense of rejoicing that comes with false positive results. Statements like “God is good” in this context might ring very true for you but to someone who has just found out their baby does have a genetic condition could be very hurtful. I really do understand where you’re coming from, but this page in particular on my blog gets a lot of traffic and I want the comment section to feel safe for those of all outcomes. I understand being glad to be in the false positive “club”, but want to assure people who are not in it, that life will still be beautiful and worthwhile and that support is out there. All the best to you and your babe, I hope you have an uneventful pregnancy from here on out.

  21. RBdoc says:

    I’m truly very sorry. I did not mean to offend anyone and I know that all babies are a blessing. I guess I was so happy that I wasn’t thinking. If there is a way to delete my comment I would do it, but I don’t see how I can.

    • jisun says:

      If you’re willing, I’d love to keep your comment up. I think it shows such a wonderful heart that you were willing to come back and hear what I said, and maybe that will positively influence one of the many people who read this post but never comment. But also, I think people should know just how often these tests are wrong, especially for the more rare conditions. Having said that, I’m happy to delete if you’d like just let me know in a comment. Truly, wishing you and your family the very best. You’ve been on a rollercoaster, for sure!

  22. […] Lee, who blogs at the awesomely-named Kimchi Latkes, writes about the myths and realities of noninvasive prenatal screening (NIPS), helpfully linking to this […]

  23. Linda says:

    Thank you so much for this post. I naively took the panorama test few weeks back when I was 9 wks and 3 days pregnant, because I was 36 and will be almost 37 at delivery AND because they can tell me the gender at 11 wks with accuracy. But instead the test came back with high risk 99% for trisomy 13. My dr said after other tests are done I will likely have to terminate. I cried my eyes out for the past few days and tomorrow I will be meeting with a genetic counselor and do a cvs and Do ultrasound measurements. Totally stressed and devastated and praying for God’s grace that my test is false. Thank you posting this insightful and truthful information. After doing my own research, I repalized these companies are falsely advertising fetal DNA and its accuracy. And imagining how many healthy babies are being aborted is just terrifying. I agree that we need to get the correct info out there. (Sorry for the long comment but thank you for your post!!)

    • Sharilyn says:

      I know exactly how you feel, it is the worst feeling in the world. We too took this test early on, about 14 weeks and received a positive result for trisomy 13. However, we elected not to do an amniocentesis because we have had miscarriages in the past, and have done monthly ultrasounds and we are 27 weeks now and no markers have shown up for trisomy 13 yet and the baby’s growth is normal. We probably have a false positive result but man it’s so stressful! Wishing you the best!!! My favorite was the bill we received for the portion not covered from the insurance company, $750, the test is so expensive if I had researched it I would never have taken the test based on the cost alone, because markers can be detected in ultrasound. It was like a nice slap across the face after everything. Those first few weeks are the worst, I really hope you have a false positive result.

  24. Peg says:

    Hello. We tested positive for 15q (angel man/Prader willi) with Maternity21.
    I cannot believe that genetic counsellors don’t advise patients against this test. The positive predictive value is 5% at best for a condition of a frequency of 1/10thousand births
    Now we need to do an invasive procedure for a less than 5% of a rare disease. I am disappointed that the FDA has allowed these tests without any peer-review publications.
    They have good evidence for aneuploidies but none at all for micro-deletions testing.

    • jisun says:

      I’m so sorry you’ve had such a bad experience, I hope you’ll consider reporting it if you feel like it had been falsely marketed to you. Best wishes. xo

    • Jennifer says:

      Hi Peg,
      We just found out today that we tested positive (1/26) chance of the same syndrome on the Panorama test. We are still in shock. We are awaiting genetic counseling and CVS or Amnio. If you have any information on your experience I would greatly appreciate it. Thank you. Jennifer

      • Peg says:

        This is a tough moment, sorry you have to go through this. We elected not to do Amnio or CVS due to the small risk of abortion. There is no history of abortion or genetic disorders in our families so we are low risk and Microdeletions test should not have been done in the first place.
        The baby is growing well. We wont know till birth if this is a true or false result.
        Hope it helps! Please let us know of the results.

  25. - DownBaba says:

    […] az invazív vizsgálatok alternatívájának tartottak, de azóta többen felhívták a figyelmet a forgalmazók túlzó állításaira és a statisztikai adatok félreérthetőségére. A figyelmeztetések legfőbb tanulsága, hogy a […]

  26. CFL says:

    I was curious if anyone had any experience with false positives for xyy or Jacob’s syndrome? I have searched like crazy to find anything, but the occurrence seems extremely low (1 per 1,000 male births) and there doesn’t appear to be any info on the PPV.

    • jisun says:

      Hi there, I’m so sorry I haven’t answered this earlier! I don’t know anyone personally who has gotten this diagnosis, but I know that with such a low occurrence, the PPV is also bound to be lower. If you are still looking for info, please feel free to email me at kimchilatkes [at] gmail [dot] com, I am more than happy to ask around for info and resources. All the best.

    • Nicole says:

      Hello…may I ask what your outcome was with this? I have just tested positive and cannot find much on it. Thanks

    • Nicole says:

      Hello. I was curious to know what your outcome was with the xyy result. I have tested positive and cannot find much info. Thanks

  27. Margaret says:

    Hi, I’m trying to sort out the true meaning of my panorama test results. I’m 43, with a number of children already. My “prior risk score” was 3/100, and “panorama risk score” is listed as >99/100. My understanding, from reading online (with a decent enough math background but oddly never took any stats!) is that for a population like me already at higher risk, these tests are pretty darned accurate. I’m sorry I have no number to back up “pretty darned accurate,” but I think I closed the relevant tab already… :)

    Do you have any clear way of helping me understand the true likelihood that the little bean does, in fact, have Down Syndrome? For my maternal age, what would be the odds of a false positive? I’m not going to do any invasive tests regardless- not going to risk miscarriage just for “peace of mind.” I’m just wondering how much advance work I should be doing here, in terms of finding good specialists, therapists, etc…

    Thank you.

    • Lori says:

      Hi, Margaret,

      So, the panorama test result is saying that based on the test, the chance that your baby has Down Syndrome is greater than 99%? (I just want to confirm that this is _your_ risk assessment for Down syndrome, not one of the numbers on the report that describes the detection rate for the test on the whole, for all people tested, for example.) So, the report must say something like “positive for Trisomy 21” or “indicates probably trisomy” or something like that?

      If so, then the chance that the baby has Down syndrome is greater than 99%.

      You may not need to find specialists yet, but you will want to make plans for where the baby is born, and if there are any expected problems (like a heart defect) that would require immediate surgery or treatment. There are a lot of great resources that you can get a lot of good info from, like There’s a nice booklet at, and some good books, like Gifts: Mothers reflect on How Children with Down Syndrome Enrich their Lives.

      Best wishes,

  28. Claudia P says:

    Thank you SO much for writing about this. I will be reporting the experience we had with my daughter in every way I think will be helpful to others , to the company itself that provides the screening and of course the professionals involved.
    She received the option to have the NIPS from her midwife who thought it prudent since she was 14 weeks into her pregnancy and had not had any other prenatal care. My daughter is 28 years old, healthy, no history on either side. It sounded harmless and sensible to make sure we were not looking at a higher risk birth. After all the science is available, why not take advantage ?
    Well, a week later VERIFI-Progenity reported back that her screening was positive for trisomy 21, with a 99.9% accuracy penciled next to the result.
    She was scheduled for an appointment with a genetic counselor and a perinatologist for an amniocentesis.
    The day of the appointment we tried unsuccessfully to hold on to some hope that the NIPS could be wrong, each of the “professionals” repeating 99% claim and the 16 week ultrasound appeared to have a few soft markers.
    The amniocentesis results took 10 days. The longest ever. Came back 46 chromosomes. At her 20 week ultrasound, the soft markers were gone and we were sent off with hugs and congratulations.
    We are still trying to make sense of all of this. Our lives were sent into a tail spin of emotions. Lots of tears , lots of sleepless nights. However, with all the stress and anxiety that was stirred, came a great deal soul searching, finding people like Jisun who are out there helping the rest of us gain perspective and knowledge and a whole lot of other wonderful improvements in our family’s attitude towards each other and towards the world we live in.
    I am writing here because I found Jisun’s blog when trying to get more information about NIPS myself and I think I should share our experience.
    These screenings should absolutely be in conjunction with proper education about what they are really able to produce as far as accuracy and the actual science behind them. We were so clueless! I have heard of many many wanted pregnancies terminated based on these screenings. Everyone needs to do a better job including us on the receiving end before we just allow these companies into our lives. The professional community also needs to do a better job at providing information to patients.
    We do not know what the future holds for our family , there are no guarantees in life. Through this we are a bit more prepared if things don’t go as we expect so I can not say I wish it never happened. But for all those who lose their ability to hang in there , the cost is insurmountable.

  29. Shelley says:

    Both this post and the above comments have been so relieving to read! My husband, family, and I have been through the most traumatic month of our lives due to early prenatal testing- primarily the panorama test. In early July at 13 weeks we got an ultra sound as part of the 1st trimester screening to measure our baby’s Nuchal Translucency (NT). It came back on the higher side of average (2.76mm) which really concerned our doctor. So our doctor wanted to be thorough and get the Panorama test done where she included testing for the microdeletions in addition to the regular testing of the three main chromosome disorders. We were heartbroken and shocked since I am a healthy 27 year old so we only knew that we wanted to know if our baby was okay- of course we agreed to do it. A heart-wrenching two weeks went by and the Panorama tests came back with our baby having a high chance (1:26) of Angelman’s Disorder which was part of the micro deletion section of the test. All other chromosome disorders came back very low chances – essentially the chances that everyone else would have. We are heartbroken and decided to get the amnio which I got done last Thursday. We are now waiting for results and have faith he’s (he’s a boy!) but continue to be stressed and scared. If he has this syndrome we are thankful the test has prepared us BUT if he doesn’t and it is a false positive which is what I’m seeing a lot of then we will be so happy but wonder how a company can get away with not providing more information about their testing research and data. I do not want anyone to have to go through why we’ve been through.

    • Peg says:

      Sorry to hear that Shelley. We also tested positive for 15q (angelman/pw) on Maternity plus but elected not to do Amnio. We will find out at birth. The company has no info on the chance of this being a real positive (positive predictive value).
      Please share the results of the Amnio when you get them.

      • Shelley says:

        Peg, I am sorry that you are going through this too. We will find out either tomorrow (if the FISH testing worked) or in a few weeks. I’ll let you know as soon as we find out.

      • Shelley says:

        We got our results from the FISH test a day early and our baby is FINE!! No Angelman’s! You and your baby will be in my thoughts and prayers, Peg.

        • Peg says:

          That is awesome Shelley!! It must be the biggest relief ever.
          Thanks a lot for sharing. I will post our results in a few months!

        • Melissa says:

          That is great news! I also had a high risk result for Angelman’s on the panorama test. I had my amnio done yesterday and was told the lab could’t do the FISH test for us. I was told we would have results in about a month. I got the original results over a month ago so this has been such a stressful time. So happy to hear all worked out for you

  30. A says:

    I’m sharing our experience here to hopefully help those who received a similar NIPT result, as I found very little info on our situation…after a non-life threatening anomoly was discovered at our 20 week ultrasound, I was referred to a high risk unit where I was strongly (very strongly) pushed to do additional testing. I did not want an amnio but finally signed the paperwork to do an NIPT.

    The test (panorama) came back with a very low risk result for the three main trisomies (21, 18 and 13), but came back with a 60 per cent chance of triple x syndrome/trisomy x. For reasons that I won’t go into here, we declined further testing after the birth of our daughter to confirm the NIPT screening result.

    After coming across a panorama brochure, I called the number listed and asked how they arrived at the 60 per cent. If I understood correctly, this number means that 60 per cent of babies who got a positive result for all the sex chromosome variations that are tested for (monosomy x, triple x, xxy and xyy), end up having the chromosomal variation the test says they would.

    In our case, the probability of our daughter having triple x syndrome was much higher than 60 per cent because I did the test in my third trimester and there was apparently a lot of fetal (placental) DNA in my sample.

    Our daughter is now a few months old and a blood test recently confirmed that she does indeed have trisomy x. Apparently the anomoly (confirmed at birth) she has is not related to triple x.

  31. shan says:

    Greater article. You should convert this into a full website on the topic.

    Of the NIPS test providers, it is difficult to understand how they are different. Anonymous commenters seem to indicate (not on this website) that Panorama and Verifi are the two best technologies. I’m curious – if you had to pick a NIPS test provider — Which one would you get? We plan on getting the NIPS test done, and have a choice of the tests. We are leaning to Panorama.

    I’m not sure whether to do the microdeletions test or not. I am for advancing the databases, so maybe the answer is to get the test done, but not look at the results…. I don’t know.

    • Alexis says:

      If you flag up for high risk for one of the microdeletions you will be told of the results- I think it would be considered unethical for your doctor to withhold that information.

      We chose Panorama because it was the test my clinic carried. No other reason.

  32. Melissa says:

    Great Article. Thank you everyone for sharing your comments. Our panorama test came back with high risk for Angelmans in July. I had an amnio done yesterday and am waiting for the results. My OB wasn’t able to provide any info about the false positive rate of the test, nor was my genetic counselor. All I was told over and over again by the genetic counselor and high risk OB who did my amnio was ‘why did you have this test done when you are not high risk’- a question I couldn’t answer since I was told it was part of screening at my OB’s office and didn’t know to question it. I will have the results in about a month. It’s been so stressful for our family.

    • jisun says:

      I’m so sorry you didn’t get better support, mama. I wish doctors were doing a better job communicating what the test recommendations really are. At least now you can be more emotionally prepared for whatever comes your way, but I know that is a small silver lining when a person is in the middle of waiting. xo

    • Shelley says:

      I am so sorry you’re dealing with this. I was in the same position and got an amnio done in early August. They also said I was high risk for angelmans. My amnio came back clear and my baby is perfectly healthy! The false positive is 95% because of the length of time this specific test has been on the market which is not even a full year. It is an awful test and I wish we could do something about it to prevent more families from going through this. Keep your faith and know your sweet little one is growing strong inside you! Everything will be okay!

  33. Lisa says:

    I just received my Panorama results. High risk for deletion of chromosome 22, Digeorge syndrome. I’m a nervous wreck. Praying for peace & comforting during this time. Just waiting to hear what our next step is. Any input/thoughts would be appreciated.

  34. Rose says:

    I failed the quad test, I also had 2 soft markers on my genetic sonogram, and now the free base DNA came back positive for Down syndrome . I am 40 years old. I have a 5 year old healthy daughter . What’s your advice ? Thanks again

    • jisun says:

      Well, it depends on what kind of advice you are looking for, as well as what was in your mind and heart when you started your pregnancy and consented to the testing. I can offer you resources and an ear to listen, or connect you the best I can with what else you need. No matter what, you can know that good things lay ahead for you. Feel free to email me, mama. kimchilatkes [at] gmail [dot] com

  35. Lisa says:

    Does panorama give everyone the same high risk percentages for microdeletions? I had my panorama test come back high risk for Digeorge 1:19. Everything I’ve read everyone has those same high risk ratios. I’m just curious if this is a standard percentage they give everyone who is flagged high risk.

    • Alexis says:

      I had the same 1:19 for DiGeorge and that’s all I’ve heard of as well. My daughter was confirmed negative with a CVS procedure.

      • Lisa says:

        Praying for the negative also. We go in for an amnio on the 30th. This is definitely not what I expected. I’m so ready for the waiting & anxiousness to be over!

    • Shelley says:

      I believe they do give a standard percentage for each type of microdeletion. I was 1:26 for angelmans and saw many other people with the same ratio. I do not like these microdeletion tests and do not believe they should be on the market. Their false positives are way too high. After 6 weeks of hell my baby is perfectly healthy thank God. We are now able to have a happy normal pregnancy. Everyone who has taken these tests and has high-risks for microdeletions- have faith!!

      • Lisa says:

        I agree, this waiting period is complete hell. I have seriously been on an emotional roller coaster. I don’t even know if I have any tears left. All I can do is pray that he is perfectly healthy.

    • jisun says:

      Hi mama! I’m sorry this is such a rollercoaster for you, I’m glad you’ve found some connection through the comments here. I thought this article might be of interest to you:

      I do really think that these screens are not very good for microdeletions. Having said that, if you do end up having a baby who does have DiGeorge, please know that there is support out there for you. xo

  36. Marie Hope says:

    i took the harmony test at 10 weeks my results all came back fine via email then 2 days later I was contacted by Harmony and told they needed to redraw my bloods due to an error. My bloods were taken again at 12 weeks and the results can bk at 99% > for monosomy x. How can they make such a huge mistake. I am an IVF patient aged 49 but using a donor egg from a 20 year old. Can the results for donor egg recipients be accurate.
    I have been through three IVF cycles trying to conceive and the results of the harmony test have completed torn my world apart.

    Marie Hope

    • Sharilyn says:

      Hi Marie, I found this website when I was exactly at the stage you are, we also did ivf and they had to redraw my blood as well. Genetic counselor told us in her recent research that a regular pregnancy they can get those results at ten weeks, but for some reason with ivf they can’t get results until we are a little further along. We had a positive trisomy 13 test for our baby and were around 14 weeks when we found out, and elected not to do an amniocentesis since we have had many miscarriages. We did growth scans every month and no markers ever showed up in the scans, and in July we had our baby boy with a nicu team in the delivery room on standby, and he DOES NOT have trisomy 13, we had a false positive. Just wanted you to know that I know exactly what you are going through, and that it is the worst! I wish you the best in your pregnancy and know that there is hope! In the end I had to just let go of all the fear and choose to love my baby regardless of the outcome. So hard!

      • Tessa says:

        My story is ongoing. At 11 weeks I had a Qnatal advanced test which replaced the Materni21. I have had 3 losses and just turned 35. No living children. My ob called me a few weeks ago and said “Tessa, your results came back, and I don’t have good news. Your baby tested positive for trisomy 13.” I asked her how accurate the test was and she said there was a 1/10000 chance it is wrong, then she said, “what I don’t want is for you to get your hopes up that it is a false positive. I am a medical lab tech and was devestated, I chose to see a group in Denver and saw the medical director for maternal fetal medicine. Prior to that appointment which was a week, I had searched every journal article and medically relevant site relating to false positives. I understand the genetic science behind it all, so it was easier for me to understand. At 13 weeks, I walked into the office in Denver for an ultrasound, fully expecting all the markers to be present. The specialist looked carefully at all the parts of the body. The brain was perfectly divided, no holoprosencephaly, nasal bone was present, no bowel outside the abd, the heart rate was 126, her size was right on track, NT was 1.8(normal) she waved and they saw a thumb. He didn’t say a lot during, but after the ultrasound, he began talking to me about false positives. Confined placental mosaicism was the main one he discussed. He went on to explain that most trisomy 13 babies have gross abnormalities seen at 13 weeks and she had none of them. I was considering a CVS but he recommended that I not do it with the ultrasound results and my risk of mc considering I had three previous. He said trisomy 13 is one that is more likely to have false positives. He also told me that the way my ob gyn presented the info happens too much, with so many doctors. and it is devastating for people. He also expressed that the way the labs report them is wrong, they should NOT be reported as positive and negative. He seems knowledgable and I figure he sees this all the time. He recommended an ultrasound at 17 weeks, so my appt is in a week. I haven’t decided about an amnio at this time. I will see what he says.

        • jisun says:

          Thank you for sharing your story, Tessa! I’m hoping you get more and more clarity as time goes on. xo

        • Sharilyn says:

          I went through the same thing. We had also had previous miscarriages and because of that we elected not to do the amnio, we did monthly growth scans and then stress tests the last couple weeks since I am 39, and we have a little boy Lincoln that is 8 months old, false positive. Such a stressful time, and we didn’t have any doctor that was able to tell us that the chances he would be healthy were pretty good. Even our genetic counselor said that out of 3 of 4 cases she had seen they were true positives for trisomy 13, even though the statistics were around 92% false positive. Such a tough time! It’s a long 9 months but you will find the strength you never thought you had through it all!

          • Tessa says:

            I have made a point to tell 5 PA I work with and one nurse practitioner that they need to be careful how they present the information regarding the accuracy of these tests. It is devastating to not have any hope. I’m still terrified, and I am so angry I did this test. As of right now I am unable to find anyone who has specifically done a Qnatal.

        • sarahthoma says:

          Hey Tessa, We are in Denver too and went through the same thing. False positive for t13. My email is if you need to chat. Sarah Thoma

    • Lori says:

      Hi, Marie Hope,
      I’m sorry you’ve had to go through this confusing and upsetting situation.
      I hope the following information will help.
      With a result that is positive for Turner syndrome, the chance the baby has this condition is not 99%. It is much less. Unfortunately, I could not find the actual positive predictive value for Turner syndrome on the lab’s website. Maybe your genetic counselor can call the lab and ask them.
      Another thing to consider is that women, as we get older, often lose one of our two X chromosomes in a small percentage of our cells (ie, some of our cells have monosomy X).
      These NIPT tests count up all the pieces of DNA from the chromosomes of interest that are found in your blood. About 90% of that dna belongs to the mother, and the other 10% belongs to the baby. So, if the mom is missing a few of her own x chromosomes due to normal aging, the lab might interpret this as the baby missing a lot of her X chromosomes. Does that make sense?
      Having an amnio could tell you for sure about the baby’s chromosomes, but I could understand if you did not want to have one. has a lot of good information about this condition.
      Take care,

  37. Stephanie says:

    I am currently 12 weeks pregnant at 41 years old. I will be 42 at delivery. I conceived via iui under the care of a reproductive endocrinologist. I superovulated with injectibles. I had 5 good sized follicles. At my 7 week ultrasound I had one baby measuring on schedule with a strong heartbeat. I returned for another ultrasound a week later and again, everything was on point. I was then released to my OBGYN. On my first visit with him, he thought that I might be a good candidate for Harmony based on my age alone. There was no other red flags yet. I agreed to it. On Thursday he relayed the “positive” T21 results to me over the phone. I had very little knowledge of this test prior to then. He said that he was 99.9% sure that the baby had downs. He said that cv sampling could be done but very few people would go forward with that given these accurate results. Since then I have thoroughly researched and found that Harmony is not diagnostic. It appears that the results are a likelihood or a high risk. But I was already high risk. I’m not sure what to think. I did call back all to pieces and spoke with a nurse who offered to set me up with a genetic counselor. I have an appt. Monday morning to see her, have an ultrasound and then possibly a cvs. Is there any hope that this is a false positive? Is it possible that another embryo started to take but didn’t make it and was not detected on the 7 week ultrasound? Could that dna also be in my plasma? Also, what do these test results look like? Does it say positive or negative or are there varying probability percentages in between?
    Additionally, they have my due date wrong. They are telling me May 3 but it is really April 27. They will not listen to me even though I know the day that I conceived and all online calculators say April 27. I think that they also put “IVF” when they filled out the lab paperwork. My hcg levels were also high. They were more than doubling every 48 hours. Any advise would be appreciated.

  38. Hannah says:

    I did not have genetic screening with my last pregnancy, but I can tell you that if I had, it would have shown a positive for a girl with Turner Syndrome. In fact I had a boy that has a mosaicism 45X, 46X icodicentric Y. This would have not shown up though since they had to do much more sensative tests to find his Y chromosome. The result; my beautiful baby boy has had some minor health issues and presents as a neuro typical boy. Don’t let the results scare you, they aren’t nearly as accurate as the companies want you to believe

  39. teamredbull says:

    Your post and comment thread really helped give me hope the last 2 weeks, so want to share my NIPT experience in the hopes it will help someone to not have to go through this unnecessary stress!

    The only screening we chose to do in this pregnancy was originally the Panoroma NIPT Trisomy 13, 18 and 21. When we received the form for the NIPT, I checked off the microdeletion test boxes thinking “why not?”… well now I know why I would never check off those boxes again.

    The test results came back fine for Trisomy 13/18/21 but with “high risk” (1 in 19 chance) for DiGeorge microdeletion 22q11. I was pretty stressed about this result and we decided to have the amnio after having met with a genetics counselor.

    The first thing she said was that she tells all people she’s counseling to NOT get the microdeletion tests which have a 95% false positive rate. In my research, I also saw a post by an OBGYN who said they do not allow these microdeletion tests to be done in their clinic – only trisomy. It is ridiculous that this test can even go to market.

    The amnio went well and it took 10 days for the microdeletion tests to come in. I received the call and it turns out I was yet another FALSE POSITIVE. I was so relieved that I burst into tears when the genetics person told me.

    Now I am on a mission to help educate and spread the word about these microdeletion tests/screenings. I would never, ever, ever get the microdeletions again! I’m so happy to be in a peaceful space again…:D

  40. sam says:

    I wondered if you have any stats or info (I can’t find anything online) for false negative panorama results.
    I had 1:3 risk for T21 with the quad screen and decided against amino because of risk of miscarriage and the anatomy scan was great. Plus we would not terminate, just wanted to prepare.
    We received negative panorama for T21 and midwife said I should trust the result but I’m still nervous its wrong.
    Thank you!

    • jisun says:

      Have you talked to a genetic counselor yet? They can give you the most updated data. I think that the false negative rate is generally pretty low, although I have heard it happening. But, as I understand, a “negative” NIPS with an anatomy scan with no markers would indicate a good chance of no T21. No matter what, it sounds like you are doing everything you can to prepare for your babe. :)

      • sam says:

        Thank you. Yes we saw the genetic counsellor after got the 1:3 risk from the quad screen based on high hcg and protein (NT was 1.5). She told us about the Panorama test and amniocentesis and said that if we did the Panorama it would sill probably come back positive. So, not very helpful!!.

        Ultimately, I just couldn’t risk anything to harm the baby by doing an amniocentesis (this was our third and final IVF and the only one that got me pregnant). Also, the peri who reviewed the level two scan and who would have been performing the amniocentesis said we should not do the amniocentesis if we would not terminate. I have had two anatomy scans since this all happened at the end of September (due to history of LEEP I have scans every two weeks) and the baby is right on track and looking great each time. I am 25 weeks pregnant.

        I am still reading on preparing for having a baby with down syndrome and I know I can cope but there is still that doubt niggling at me! I did have two embryos transferred so I also wonder if that has something to do with my quad results?!

        • jisun says:

          Oy, no that isn’t very helpful at all! I know that there have been smallish studies looking for false positive and negative results but my understanding is that the test companies won’t release their own numbers. Either way, it sounds like you guys are doing fabulously! I’ll try to find some actual numbers for you. :)

  41. Sammiemama says:

    I’m 41 and at 11 weeks of pregnancy. I got my Panorama test result yesterday and it showed a high risk >99/100 for trisomy 13. I am devastated. Do you have any information about their positive predictive value for T13? Many thanks.

  42. sarahthoma says:

    Thanks for posting this. My wife got flagged for T13 on our Varfi test and now we have to do an amino. Our ultrasound results came back totally normal though. We are worried sick. She is only 31. Ugh. What a yukky way to bring in 2016. :-(

    • jisun says:

      This might be a rough, but very meaningful moment for you as well. Life teaches us in very unexpected ways. All the best to you and your family.

  43. Ellen says:

    Thank you so much for your post. I am 37 y.o. and on Thursday I received a positive Maternit21 result for trisomy 21 and I’m terrified. I had a CVS performed the next day (Friday) and am waiting for the FISH results to be given to me tomorrow. I am holding onto the slimmest chances, I know, but am desperately hoping that I’m part of that false positive number. Do you know many women who have been false positives for T21 on the M21 test?

    • jisun says:

      Hi Ellen!

      I’m so sorry I didn’t answer this sooner! We have all been passing a bug around. I don’t know the actual number, just that as women get older, the true accuracy does increase, because the incidence of having a baby with T21 increases. I understand the hoping for the test to be wrong, but I’d encourage you to explore how you feel about both outcomes a little more closely. Many parents (including me) have found that the fear of disability is much more than the reality. There’s lots of love waiting for you and your baby, no matter what. xo

    • pupa says:

      The positive predictive value (eg. the chance that a positive is true positive) for these NIPT tests goes up with maternal age. If you know the sensitivity and specificity of Maternit21 test, you can use this website to calculate. Also, NIPT testing are more accurate for trisomy 21 than for the other genetic anomalies.

      That being said, I think we humans collectively have trouble grappling with the concept of statistics. Just remember that miracles happen, and don’t give up hope!

      P.S. I also was screened positive and am anxiously waiting for confirmatory tests, while researching NIPT like mad…

      • jisun says:

        I’m just going to comment here to say that getting a true positive and having a kid with a disability isn’t the opposite of a miracle. Miracles definitely happen, disability and all. :)

  44. Vickie says:

    My last child had a positive Detector of Harmony for Trisomy 21, my ob/ gyn immediately cried and told me I would have a 4 year old with multiple heart anomalies and enforced termination. I’m 44 and pregnant again, due to the horrible first experience. I’m terrified of any genetic testing. What are your thoughts?

  45. sarahthoma says:

    I posted a few posts up on Dec 31, 2015. I found this blog during a desperate time and it really made me feel better. We got a positive on t13 on Verifi testing but I am happy to report that we had the amnio and our baby is 100% healthy and doesn’t have T13. It was a false positive! We are beyond relieved but angry at the hell we were put through, as well as the insane medical bills we have from the amnio and a few level 2 ultrasounds. PLUS the cost of the Verifi test. :-( What an ordeal!

    • Rose says:

      I am happy to hear this. I am due next week and I also was told trisomy 21 . I will find out pretty soon. Happy for you

  46. Stephanie says:

    I recently had the harmony 21 test done and received a positive for monosomy x. I see the doctor in a week to go over further options but at this point I’m just confused. Is there any info or insight you have to offer?

    • jisun says:

      If your doctor is a good one, I don’t think I’m going to have much to offer that he/she can’t. But I’ll say that for people living with Turner’s, the day to day effects are pretty minimal. If you do opt to get an actual diagnosis and find that your baby does indeed have it, I’m happy to point you to some resources. Congratulations on your pregnancy, mama. xo

    • Vera says:

      Please check this group
      In my case DNA test was false positive too. Now I have beautiful baby girl, no TS.

    • Hannah Magrum says:

      My son would have tested positive for the same condition had I done the test while pregnant with him. However once born they did a very sensitive genetic test and were able to find his Y chromosome did exist on some of his genes. He is a completely typical kid other than needing growth hormone. His chromosome make-up is 45X 46 X icodicentricY.

  47. rosalva100 says:

    Hi , my panorama test results shows a risk score >99/100 and a PPV of 91% for Trisomy 21. I am waiting for the amnio results, Do you think possible have a different result from the amnio?. Thanks

    • Stephanie Estep says:

      I’m not sure thought I truly hope it does. I had the same issue and chose no amino. Currently 26w5d. Can’t wait to hear your amino results… Best of luck

    • jisun says:

      Hi, I’m sorry I missed this! I’ve got a lot of resources for you if you’d like to get in touch, you can email me. xoxo

  48. Frances says:

    Your article was very helpful even more so than the conversation I had with my very experienced OB this morning! I’m probably wasting my time asking you but I’m honestly so confused and distressed haven’t stopped crying all day. My Harmony test results have come back 99% positive for Trisomy 18 and my OB had said I need to book in for a curette as there’s no point having any other tests it’s pretty much confirmed. Is this the case there’s only 1% chance it’s not??

    • jisun says:

      Hi! Are you in the US? In the US you would be able to request to see a genetic counselor and they can give you better numbers, but my understanding is that the PPV for T18 is not terribly good. Meaning, more false positives. Having said that, you might want to consider what you’ll do with any further diagnostic information. Some people choose simply to “wait it out” and some people decide that they must know no matter what, whether for emotional reasons or for specialized prenatal care. Regardless, a decision to have an amnio and get an actual diagnosis is entirely up to you. I can’t give you actual statistics or real medical advice, however, so I really encourage you to seek the help of a counselor or a doctor you trust more. Sending you a big hug!

    • Lori says:

      Having a diagnostic test like CVS or amnio is always recommended to confirm the results of an NIPT test. Have you had an ultrasound? Has anything been seen on it?

    • sarahthoma says:

      Please have other testing done!!!! We had a false positive.

    • Sharilyn says:

      I know exactly how you are feeling. We have a very reputable OB and she said there weren’t any false positives for the test, and ours came back positive for T13. We met with a genetic counselor and their statistics had very high false positives. For t18 they had it around 90% false positive rate, 93% false positive rate for t13. But even the genetic counselor was very conservative saying of the 4 cases of positive test results only one ended up being false positive. It’s so deceiving because they advertise a 99% rate, but they refer to it being the sensitivity, meaning that they will find 99% of the genetic disorders, BUT of those they find, there is a very high false positive rate for the more rare disores like t18. For T21 it’s more accurate, they said around 20% false positive rates. Such a hard place to be in, and I know it’s probably not kosher for me to give you these rates but no one would ever tell me anything like this and we were totally devastated and should have had some hope. We elected not to do an amnio and just did monthly growth scans and we had a normal 9 lb 4 oz baby last July. Don’t lose hope and keep asking questions and definitely meet with a genetic counselor. Wish you the best and hope that you find comfort in the meantime until you have more answers!

  49. Veronica says:

    Hello. I am 12 weeks and my Harmony test showed that I have a 1:19 chance for diGeorge baby syndrome. I got back my preliminary FISH result from CVS amino I had done. Negative so far. But. Since the fluid in baby’s neck showed 5.8 (NEUCHAL Translucency), my genetic counselor is very pessimistic that the final result of my CVS test will be good. He’s almost 100% sure it’ll be diGeorge syndrome. I am beyond terrified and on the verge. I have 10 more days to wait for the CONCLUSIVE RESULT OF THE CVS TEST. PLEASE. HELP. 36 yo. First to be or not to be baby 😢😢😢😢😢😢😢

    • jisun says:

      Hi, Veronica! Do you want to email me? kimchilatkes (at) gmail (dot) com

      • Charlotte says:

        I was wondering if my risk score from Panorama for 22q deletion was typical and was sorry to see most people on your thread reporting a risk scoe of 1:25. I received a risk score of 1:5. Did they start getting more accurate or are they just more sure in my case? I was feeling better knowing It was an 80 percent chance my baby was chromosome complete and now I’m more worried than ever!

    • Ramona says:

      I am sorry for the stress you are going through. I, too, was flagged high risk for 22q11.2 deletion syndrome. In the end we chose not to do an amnio and afte confirming no immediate risk would be present at birth we decided to wait and see since 22q had a huge variation in presentation in every case. Some cases are so insignificant that people don’t even know hey have it until the have a child. My baby girl was born in April and we confirmed the diagnosis. That being said, she is absolutely perfect! And while she isn’t a typical baby, I could never imagined choosing to terminate knowing that the diagnosis is far from a death sentence. Please feel free to reach out to me if you get confirmation!! It is a scary diagnosis, but totally doable!!

      • CristyD5616 says:

        Hi my MaterniT21 test showed high risk for Digeorge syndrome. How accurate is the test for this? Im so confused because my OB said its an 88% chance its wrong but the high risk OB said that he for sure has it that i need to terminate before 20 weeks. That just because he looks good on ultrasound it means nothing.. i felt she was pushing me to terminate my pregnancy. I haven’t been able to bond with this baby and it breaks my heart. I am having a level 2 ultrasound on the 13th amd im so scared! Has anyone had a false positive for Digeorge??

        • jisun says:

          Hi Cristy, I’m sorry I haven’t been checking the blog lately! Did you end up getting your questions answered? If you still need to talk to someone, please don’t hesitate to email me. Kimchilatkes at gmail (dot) com.

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