Non-Invasive Prenatal Testing (NIPT): A False Positive Story

Missing X ChromosomePregnancy sucks!

I know there are hoards of women out there who think otherwise and who take every opportunity to remind those not towing the party line that pregnancy is something blissful. But they are wrong. And yes, I’m a man telling pregnant women that they are wrong about how they feel.

My wife is pregnant (thank you, thank you, thank you, very proud, very excited, no idea what’s in store for me).

The first trimester was strange and surreal. A sense of relief that the system actually works. A puffy-chested manly-manly feeling that “I did that!” A simple reality as we saw a first ultrasound, heard a heartbeat, and said goodbye to the neighborhood sushi restaurant. And every time my wife went to the bathroom I held my breath in anticipation of miscarriage. She did too.

In what felt like forever and no time at all we were at week 12, the end of the first trimester. Standing at the gates of a public declaration of procreation, or rather sitting at the Social Security office to change my wife’s legal name (these things are always so banal), the phone rang. It was her OBGYN. The “NIPT” blood test results had come back to indicate that the fetus had tested positive for Monosomy X.

Monosomy X (also known as Turner Syndrome) is a chromosomal abnormality where a female fetus has only one complete X sex chromosome. It causes miscarriage in the majority of fetuses with the disorder, and those that make it to term can suffer from a wide variety of symptoms later in life. These include short stature, low-set ears, heart defects, infertility, scoliosis, hearing loss and many others. (Find out more here.) Choosing to terminate such a pregnancy is a common decision, and one that we were immediately confronted with.

Devastating news is a strange beast indeed. It warps time, contorts one innards, and distorts the senses. In a moment, the world is an alien and unknown place, its colors and smells unfamiliar and confusing: the dusty haze of the Social Security office, the buzzing of sound, and the smell of stale cigarettes emanating from the person sitting next to me.

We were told that there was a 99% likelihood that the results of the blood test were accurate, and that my wife needed a CVS test (chorionic villus sampling) to confirm these results. This test involves inserting a long needle in the uterus to remove placental material, which is then used to confirm the chromosomal makeup of the fetus. There is a short window of opportunity for a CVS test (usually between 10-12 weeks) and, similar to an amniocentesis, it carries a certain risk of miscarriage. Frantic calls were made, appointments were set, and we wound up the following day at the Prenatal Diagnosis Center at Cedars Sinai.

I find it hard to write about the week that this happened. Gut wrenching emotion, unrelenting and crippling as it was, is difficult to put into words. My wife and I, having gone through this together, share an emotional understanding that can be conveyed in a look (albeit a look we choose not to give each other very often). But how can one articulate such anguish to others? And why would you want to? In writing about a time of distress one either fails to convey it accurately, thereby missing the point of writing about it, or invites it back to take up residency. And I know I do not want to feel that way ever again.

However, I write because I found hope in reading what others had written: in the forums of people coping with similar bad news, and of the sliver of hope that the results would prove to be a false positive. Those were the stories I sought out, read over and over, and prayed for.

The test results of the CVS were to take 10-14 days to come in, and I knew neither my wife nor I could survive waiting that long. We opted to pay out of pocket for a FISH test (fluorescence in situ hybridization), which would give us preliminary results within a few days. Yes, this was expensive. No, I didn’t care. All that mattered was knowing definitively what we were up against.

And so we waited. And waited. I drifted in and out of work. We went to many a bad movie. We sat in silence. We cried. We slept poorly. We ate poorly. And all the games we played as parents to be (Do you think she’ll have your nose? What do you think of this name?) vanished from our repertoire. We were struck dumb.

That Friday morning, thick with grief, we got in the car to go see yet another movie. Not five minutes from our home, stopped at a traffic light next to our local gas station and a construction site (these things are always so banal) the phone rang. It was the genetic counselor at Cedars Sinai. The FISH results had come back and it was GOOD NEWS! The fetus was healthy. They found the missing chromosome, the missing X. The initial test was indeed a false positive.

We cried. We breathed. We called the few members of the immediate family that knew what we were dealing with to tell them that our nightmare was over. And then we went to the supermarket and stocked up on food.

What is relief? Knowing that everything will be ok? We still don’t know that. We have many weeks to go before our daughter is born, hopefully healthy, and hopefully followed by years of worry. What has happened, rather, is that we have jettisoned any sliver of innocence we may have had. That tiny moment in time when everything is utter bliss, and before all the anxiety of parenthood sets in, is lost to us.

Throughout this ordeal we learned of a whole new type of sorrow (who knew there were so many different types of pain?), but also a whole new type of appreciation and love for one another, and for the child my wife is busily building.

So we remain hopeful.  And grateful.  And eager to welcome our daughter into the fold to teach her a thing or two.  And for now we accept our reality of subtle but incessant worry, we laugh at the painful gas, and we revel in not having a clue what’s next.

Side Note:

The test my wife did was the “Verifi”. Apparently, all the documentation on how accurate these tests are comes from the manufacturers themselves. These tests have only been available for a few years and appear to be missing much needed independent scrutiny. The arrogance and cruelty of a company putting out information that promotes their product while subjecting people to unnecessary mental anguish is reprehensible. Were it not for the forums I read online, and the doctor who administered the CVS telling us he does indeed see a fair number of false positives, I don’t know how we would have made it through.

UPDATE:

Our daughter was born, perfectly healthy, in February 2015, and the spectre of the NIPT has finally been laid to rest.  For anyone else going through this I wish you tremendous strength and courage.

24 thoughts on “Non-Invasive Prenatal Testing (NIPT): A False Positive Story

  1. Sarah

    I am commenting to thank you for your article. This Friday I received a phone call from my OBGYN that our baby tested “positive” for Turner Syndrome. I immediately scheduled an appointment with the genetic counselor for a CVS for this upcoming week and then, having never even heard of Monosomy X, I scoured the internet for information. My heart dropped at the first link citing a 99% miscarriage rate and the accuracy of NIPT. In the depths of my despair, I came across your article. Stories like yours and others have given us some hope in a future of unknown. From my research of the positive predictive value of NIPT for Turner Syndrome ranges from 23-61%. While I remain cautious to give my heart hope, I have reread your article tens of hundreds of times praying that my story will mirror yours. Thank you from this terrified mama.

    Reply
  2. Tanya

    Hello,
    I can’ express my gratitude for this post. Our journey started as the most happiest event in our lives when the test showed 2 lines. We were scared but very excited and run to a doc at 5 weeks, who confirmed the pregnancy. We did all the blood work and I got on healthy diet/workouts/prenatal vits. A few weeks later, our doctor called and said that the blood work came back showing that out of 139 tests, one came back as abnormal for Fragile Chromosome X. They set us up with genetic specialist the very next day, we were so scared and didn’t do any research. The genetic doctor recommended to go through CVS at 11.5 weeks and not read blogs, etc, Of course we did CVS and then a day later our world just turned and we entered a dark place – Turner Syndrome. I am not sure of the names of the tests but I think the FISH one showed Turner in the placenta. And that’s how we found out we have a baby girl…my lifetime dream. It has been 6 days and we are waiting for final results….these 6 days have been an absolute nightmare that I didn’t know exists in this life. Finding this blog got me hopeful and I also scheduled another appointment at NYU for a second opinion….
    So…Thank you! I thought that preliminary results were 99% accurate that the baby has Turner (at least that’s what the genetic doc told us). So…we will wait….and hope…You gave us hope – thank you

    Reply
    1. Mischa Post author

      I am so sorry you are going through this. Stay strong and find comfort in each other. You are not alone! My thoughts and prayers are with you.

      Reply
      1. Tanya

        I wanted to give you an update: genetics doctor just called and said that labs made some critical mistakes and they are doing retest on all the samples….but…we are having a perfectly healthy baby boy!!! with all chromosomes and no fragile ones. All the apologies, etc – I didn’t listen because I started calling my husband right away…
        To all future parents out there: please-please do NOT give up…I am at fault as I bluntly believed doctors but…Turner Syndrome is so rare, that it most likely will be a mistake….
        Good luck to all and, Misha, thank you for this post as it really helped me to survive the last few days!

        Reply
        1. Mischa Post author

          That is the best news possible. Congratulations!!!! May the rest of your pregnancy go as smoothly as possible. I know many people will tell you to enjoy the quiet you currently have, not to mention the independence. It’s impossible to express the ways in which your life is going to transform, and it is beyond exhausting, but it’s incredible!

          Reply
      2. Theodora

        Hello,
        We are going through the waiting game at the moment. I’m 37 years old. This is my third
        Pregnancy. The NIPT test came back positive 53% for
        Trisomy 18 which was devastating news. We opted to do CVS at 12 weeks the NT was perfect 1.6 doctor says she’s hopeful we only get CVS results next week.
        Your blog has given me hope to get through the next few days. I’m praying for a false positive

        Reply
  3. Justine

    Hi Mischa I wanted to thank you SO much for your blogpost. I read this many, many times since last Thursday, when I received a 99% chance of Turner’s from my Harmony test. I have since done a CVS, and had the FISH results reported today that it is ALL NORMAL. I wanted to post this story to pay it forward and give other people hope, the way this post gave to me.

    Reply
    1. Mischa Post author

      I am so happy for you, Justine. The sense of relief that comes with those FISH results is indescribable. Thank you for posting your good news.

      Reply
      1. Justine

        Thanks so much! Did you do a microarray also? Or just stick with the FISH results? It is really so great that you documented this for other people to read about, and have hope with. Your writing is captivating also :)

        Reply
        1. Mischa Post author

          As I recall we didn’t do the micro-array. It’s all a bit of a blur, although I will never forget the precise moment we got the results of the FISH. I’m glad I documented it at the time in such detail.

          Reply
  4. Tomer

    Hay
    Me and my wife had the same story… We are live in israel and the doctors recommend this test(we did verify) its costs us 1500 usd… The doctors didn’t say to us that the test in cases of monosomy x is less than 50 % and even less.
    We hade 3 weeks of pain cry and agony that I can’t even explain in words.
    Just after we made the FISH test and get after 2.5 weeks call from our genetic doctor that say that everything is O.k and they found the missing x , we got back our smile…
    The companies that make this tests never publishing the true percent…
    We went through hell.
    But now everything is o.k

    Reply
    1. Mischa Post author

      Thanks for posting, Tomer. I am Israeli too and am surprised to hear that the same issue came up there, considering how good the health care system is. We have all been at the mercy of the companies that make a profit off these tests.

      Reply
  5. Ann

    I know someone that just went through the same traumatic experience with verifi and Turners syndrome. I would advise against taking this test if not necessary. The ob specialist said it was not a good test.
    and it appears to be giving false positives. Why put yourself through this if you are not a high risk!!

    Reply
  6. Christina

    Thank you so so much for sharing your story online. It was the one article that kept my husband and I going and which I re-read over and over again to will the same outcome for ourselves.
    I am just over 16 weeks now and had the same Verifi test done 3 weeks ago with the same red flag for Turner Syndrome. The call I received from the clinic sounded so definitive and they said the test was more than 99% accurate. We were absolutely devastated and had to wait 2 more weeks to do the amniocentesis test. Luckily I found your blog and the many other blogs and links that gave me hope that such NIPS tests had many false positive results.
    True enough, after 3 weeks of hell (same sleepless nights, poor eating, mindless movies, hiding from anyone else we had to make conversation with, thoughts moving from hope to guilt to despair, reading everything we could find online), we finally got a call this morning that the flash test results of the amnio was all normal – they found the other X chromosome.
    I just wanted to thank you again for writing your experience down. I am forever grateful for the comfort and hope it has given me. I will also be giving my feedback on the Verifi test and hope they will become more responsible in their advertisements.

    Reply
    1. Mischa Post author

      I am so happy that everything worked out, and you can put it all behind you and look to the future and all the wonderment that is in store. Our daughter is now 15 months old and we are definitely not the people we used to be. Exhausted, wiped out, bleary eyed, and whatever other synonyms you can think of for tired. :-) It’s a wonderful thing that is just around the corner for you.

      Reply
  7. Kevin

    Thank you so much for sharing your story. My wife and I are 11 weeks, 1 day pregnant and got the call yesterday from our OBGYN that the Progenity Verifi test came back positive for Turners. The gut wrenching emotions of this news have been terrible, but we both feel some slight comfort in knowing that other couples have gone through a similar, horrible experience. Neither my wife or I could not read your story without crying. We want so badly for our story to echo yours, but realize that there’s a significant chance that may not happen. Thank you so much for sharing your story and for helping us to realize we’re not alone in this nightmare.

    I have been researching the Verifi test and Turners % rates and want to share a few reputable links that I think other folks in this situation may find useful:.

    Here’s the Verifi Test Data, compiled by the company (conflict of interest?) and Tufts Medical Center in Boston – they incorrectly market 0.26% false positive rate by dividing the 46 confirmed false positives by the total 18k tested. The true rate should be 46 confirmed false positives divided by the 204 total positive results, which is 23% false positive rate, or roughly 100 times greater than their marketing BS! Notice 148 of the 204 positives were for Turners, and 35 of the 46 false positives were for Turners. 148 positive results out of 18k is over 2.25x higher rate of positive results that would be expected from the average rate of prenatal Turners diagnosis, as shown by the 14 year study in the next link.
    http://www.vcgs.org.au/downloads/NIPT/SMFM_Poster_2014_sex_chromosome_data.pdf

    Here’s a 14 year study on prenatal diagnosis of Turners covering 22k fetal karyotypings.
    http://www.jultrasoundmed.org/content/25/6/711.full

    Here’s an opinion article from another victim of a NIPS false positive for Turners
    http://liveactionnews.org/the-problem-with-prenatal-blood-tests/

    Here’s a Nature article focusing on the high incidence of false positive (62%) in NIPS testing for sex chromosome disorders
    http://www.nature.com/gim/journal/v17/n3/abs/gim201492a.html

    From the study data I’ve found, it’s clear to me that the Verifi NIPS test is no where near the 99% accuracy printed on their marketing brochure (which if you read the fine print, is calculated from Trisomy 21, 18 and 13 only). This company appears to not want to publish (or worse, they do not know) the true false-positive rate information for Turners. I plan to contact these *$#%ers directly to try and attain some further information because they don’t publish it on their website.

    Reply
    1. Mischa Post author

      My heart goes out to you and your wife. I don’t know what additional diagnostic testing you are doing but I do know how elastic time is when you are waiting for results. Not knowing definitively is torturous so be as kind and forgiving of yourselves as you can. You will get through this, that I know.

      I so appreciate you taking the time to post the information you have found. I was exactly the same, scouring the internet for anything I could find to help me understand what was happening. The time spent frantically clicking was extremely helpful and gave me somewhere to direct all of my anxiety, frustration, and grief.

      I wish you the very best, and no matter the outcome both of you will emerge stronger, more understanding, and closer than you have been. My thoughts are with you both.

      Reply
  8. sarah thoma

    I found a link to this via Baby Center as we are in the middle of the agonizing hell of not knowing whether our baby has T13 due to a positive Verifi Test. Our Nuchal U/S was totally normal. Reading blogs like yours and the many others on Baby Center are giving us that hope we need to get through the next few weeks. Thanks again for posting this and congrats on the healthy baby girl!!!!!

    Reply
    1. Mischa Post author

      Stay strong. Since writing this piece I have been learning about just how many false positives there are. Please read the following article, which specifically mentions the high rate of T13 false positives.

      http://bit.ly/1ssRYBu

      I wish you the very best and hope that by this time next year you can look back at all this asa hazy dream.

      Reply
  9. ChiMomma2Be

    Thank you for this! We just went through a somewhat similar ordeal (not with Verifi but rather had a large NT measurement during an ultrasound which indicated a strong possibility of Down or Turner Syndrome, Trisomy 13 or 18). The nearly week long wait between the initial NT measurement and the FISH results from the CVS were some of the worst, darkest days of our lives.

    I wanted–and still want–information about my baby, but am starting to think technology is scaring us a bit too much. A lot of mixed emotions right now, but still very happy to have an (as far as we know now) healthy baby. Good luck to you as well!

    Reply
    1. Mischa Post author

      Thank you so much for your reply. I am so sorry to hear you went through a similar scare but relieved to know everything looks ok. I know exactly what you mean when you say you have mixed emotions about the technology. My trust in the medical world is certainly not what it used to be. We certainly want to know everything that is going on inside my wife’s uterus, but we take it all with a large pinch of salt, even when it’s positive news. I wish you the very best and fingers crossed. I suspect that worrying is simply a perpetual state of being from here on out.

      Reply
  10. Heather Brown

    I am definitely going to show this to Steve so he can get even more excited to be a dad.

    I promise promise promise you will worry a ton and I think you will laugh and get a lot of the mushy joyful bliss as well. And I don’t know from being a parent (I am far from one), but I know because you and Jessy are the sort of folk who are able to see and experience both joy and pain without denying the other exists :)

    Reply

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