Before reading my story, I think it’s important you know that it has a happy ending. As I am writing this, my happy ending is sleeping soundly beside me. And yet, it has taken me months to finally write this blog post. I had to make sure that our baby was healthy before I could ever begin to look back on such a difficult season.
I’ll never forget where I was when the phone call came in. I was driving on 610 North with my two boys in the car, headed home after a normal day of school. My doctor’s number showed up on caller ID, and I thought nothing of it. I assumed it was an appointment reminder from the nurse. As soon as I answered the phone, and I realized it was my doctor, I knew something was wrong. In the back of my mind I hoped she was calling to tell me we were having a girl. She has two boys and a girl, and knew how badly I wanted the same. Her phone call, I hoped, was telling me this good news. I could not have been more wrong.
I was 12 weeks pregnant at the time and had done the early pregnancy blood work, including the optional NIPT {Noninvasive Prenatal Testing} that checks for gender and a host of abnormalities in the baby. It’s a pretty common test that many expectant moms do because they want to know the gender of the baby sooner than the standard 20-week ultrasound. I’d done this test in previous pregnancies, found out the gender, and went on my way. But this time was different. My doctor was calling to tell me that my test results showed that our baby tested positive for Trisomy 13. Through giant tears, I began asking her questions. So many questions. What is Trisomy 13 {no, it’s not Down’s Syndrome}? What do I do? What does this mean? How accurate is this test? She patiently walked me through the answers and the next steps, and wisely told me not to go home and google it.
So, I did what most anyone would do and I googled it. And then immediately regretted that decision. It was bad. So bad. I called my husband at work and could barely muster out a complete sentence because I was so distraught. He left work immediately and came home. And my boys – remember, they were in the car with me – were stunned with my sudden outburst. They had never seen me crying like this. How could this be happening? Our other two children were so healthy. How could this happen? What went wrong? WHY?
When my husband got home, we called my doctor and she kindly took the time to explain everything to him, so that he could understand the diagnosis. I don’t speak science, so he was able to process it and help me calmly understand the facts. The next day, we met with a genetic counselor who walked us through all of the information. I felt like I’d been transported back to high school biology, learning about chromosomes all over again. Except this time I actually paid attention and cared because now it impacted me in such a big way.
I learned that the NIPT screening that I had done is a blood test that analyzes the mother’s DNA to evaluate the baby’s risk for the most common chromosomal disorders. Pieces of the baby’s DNA are in the mother’s bloodstream, which is why this screening only tests the baby’s risk, and isn’t a full-blown diagnosis. When my blood work came back, it showed that the baby had a risk of having Trisomy 13. Fortunately, our baby was only at a 25% risk of having Trisomy 13. This percentage, called the positive predicative value {PPV}, was calculated by my doctor and genetic counselor and was based on my maternal age at the time of testing.
Most babies who have Trisomy 13 do not make it to term, they stop growing and die in utero. If they do survive until birth, they usually only live for a couple of hours. There are rare instances where the baby does live, but their birth defects are so severe they almost never leave the hospital or celebrate their first birthday. Learning this, you can imagine the defeat we felt over this news about our baby boy {amidst all the bad news, we learned we were having another boy…which really changed my disposition about wanting a baby girl}.
My husband kept emphasizing that there was a 75% chance he was perfectly healthy. All I could think about for weeks was yes, but there’s a 25% chance that he’s not. I was so worried it was nearly impossible to think of anything else. I would cry in the middle of playing with my two boys, because I was so thankful they were healthy. I would wake in the middle of the night in tears, which then would sometimes lead me to open my computer and go down a rabbit hole of “what if’s.” I cried tears of confusion, so unsure why this was happening and what went wrong. I cried because there was nothing I could do and I was just so incredibly scared.
The next step in this process was to have an amniocentesis performed, which had to wait until I was 16 weeks pregnant. The initial phone call from my doctor came at 12 weeks, so it was a very long four weeks of waiting, praying, crying and just being completely wonderstruck and grateful that I had two healthy children. My sweet, precious doctor, who I consider to be a friend – especially after this ordeal – gave me some poignant advice. She said there’s nothing that can be done by worrying. It’s just a matter of waiting. There is nothing you did or can do to change the outcome, and while worrying is a natural reaction, it won’t change the results.
When the day came for my amniocentesis, I was so ready to just have it done. My husband and I knew that if the diagnosis were in fact true, we would keep the baby and love him as long as we could. We wanted the baby to have a chance to be loved, even if it was only for a short time. This test, like the entire pregnancy, was in God’s hands. We need only wait, which is something we’d become quite good at.
For those unfamiliar with the amniocentesis, it’s a procedure performed by a doctor by sticking a needle into the amniotic sac and withdrawing some fluid, which is then tested further for any birth defects. It gives a much more accurate picture of what is going on with the baby. The procedure was so painful, and they had to do it twice to get the fluid, but my husband was by my side comforting me the entire time as the tears streamed down my face. All I could think was that our ordeal was almost over. Soon we would know what our future would hold.
The results of an amniocentesis take two weeks to come back. However, you can get the results quicker by paying for the FISH test, which is 98% accurate. This is the moment I realized that you can, in fact, put a price tag on your sanity. Without hesitation we paid for this test to get our results as quickly as possible.
Just over 48 hours after the amniocentesis, we learned that our baby was healthy. The original NIPT screening was indeed a false positive. There were no indicators at all that he had Trisomy 13. It was over. Our baby was healthy and everything was going to be okay. The weight of the world had been lifted off of our shoulders. We held each other tight and cried tears of joy as we rejoiced over this news.
My takeaway from this entire experience is that babies are a miracle. An absolutely beautiful miracle. Throughout this incredibly emotional time, I no longer cared about the gender of our baby like I once did. The deep desires of wanting a little girl seemed so frivolous in comparison to having a baby that would live. During the weeks of waiting for our amniocentesis, I dreamt of the moment I would be able to hold my minutes old newborn to my chest and inhale his sweet newborn scent. Oh how I just wanted to get to that moment, even if it meant he was attached to wires to keep him alive. I just wanted to hold him and comfort him, and perhaps, I wanted some comfort from him, too. To know that no matter the outcome, he was a part of our story, a part of us.
The emotions from this season are still so very raw, and as I type these words tears fill my eyes. When I think about what could have been…well, I just can’t let myself go there. Instead, I look at my three month old, with his endless leg rolls and gummy smile, and my heart feels that it could just burst with love. He is our happy ending. And for that, I am forever grateful.
Brittney,
As long as I have known you, you have dealt with life’s challenges with grace, dignity, and strength. You will be such a good role model to your three boys. I’m so thankful that Ryan is healthy!
Sending love,
Sharon
This was so crazy to read. My friend sent me this article because she said it sounded so similar to my story… Brings back a rush of crazy memories. I got the same diagnosis, but the only difference was that my FISH result was positive for trisomy 13, but my amniocentesis was negative. The only explanation was that the outside of my placenta had Trisomy 13 chromosomes but it didn’t effect the baby. Of course we didn’t know that until he joined us in the world 10 months ago & man do I believe in miracles. Thank you for sharing your story! Grateful that we both get to be on the other side of it.
So grateful for your happy ending! Babies are such a miracle…but man, can pregnancy be terrifying!
Can I ask how you are coping with ppd this time around? I have a similar story to yours, two boys and I had terrible anxiety and difficulty sleeping after my second child. I’m now considering a third and am terrified but also really want to go for it! Any insights??
Hi Helen!
I’m doing great – it’s like I never had PPD before. My baby is really easy going, he sleeps great and eats well and has a cheerful disposition. His easy-going nature has made all the difference. This time around, I also recognize when I can feel PPD feelings start creeping in, and I immediately ask for help from my husband in those moments. So, I say…go for #3! You always regret the babies you don’t have…not the ones you do!!
XO,
Brittney
Thank you for sharing your story. Can I just check whether you debated the decision to have the amnio? Our harmony test has just come back with a high probability result for trisomy 13. Our specialist is telling us that based on the scans they think it is most likely a false positive, but obviously only the amnio could confirm that. We are just not sure we want to face the risk of miscarriage, but I am not sure how I will cope with the uncertainty if we don’t.
We didn’t debate about the amnio, because we wanted to know so that we could be as prepared as possible for what was possibly coming the remainder of the pregnancy and when the baby was born. We were told the risk of miscarriage was incredibly low with the amnio, and we trusted the doctors and the team handling our case. I know that I could hardly cope with the time from when my NIPT results came back until the amnio. I could not of emotionally handled the remaining months of pregnancy – I think I would’ve become so paranoid and would not have been well. I hope that helps you with your decision.
Helen… how did your story turn out?
Wow so emotional reading this article. We are in the exact same boat currently. Our NIPT came back as 28%. We won’t know for sure until our amnio in 3 weeks. I have been scouring the internet and by grace came across your article this afternoon.
Hi Libbi! I’m so glad you found the blog post about this issue. That’s exactly why I wrote it. I’m so sorry you’re going through this. It’s awful, and the waiting is so hard. I’m going to pray for you and for your baby during these incredibly anxious days. Please keep me posted!
Love,
Brittney
I really hope i have the same outcome. We did the cvs test and get the results back tomorrow. I am a wreck. I just my boy to be healthy.
Hi Brittney, I’m a health reporter in Virginia, and I’m working on a story about NIPT false positives. I was wondering if I might be able to speak to you a bit more on the topic. Do you know if that’s something you might be interested in?
Thanks,
Carrie Arnold
[email protected]
Thank you for sharing your story. I am going through this now. Had out NIPT (Materniti21) last week and the 1st trimester ultrasound this week. Ultrasound was perfectly normal, but NIPT came back positive for Trisomy 13. However, the report specifically stated that the amount was “suggestive of confined placenta mosiacism” (i.e. tri 13 only in the placenta and not the fetus). Based on this report and the perfect ultrasound, we are praying this is a false positive. We’ve also learned that the majority of positive results for tri 13 are indeed false positives. We are talking to a genetic counselor in 2 days to learn more, but we are leaning toward waiting until 16 weeks for the amnio instead of CVS. I’m extremely worried about the miscarriage risks with the amnio, but I don’t think I can go on without knowing for sure.
@Brittney, after your FISH and amnio results came back, did doctors express concerns about the abnormality just being in the placenta and that having an impact on the pregnancy? My doctor told us that if the amnio results indicate a false positive for tri 13, they will assume the positive came from the placenta and they will then treat my pregnancy as high risk, which means more scans and heavy fetal monitoring to make sure the babe is growing. My doctor also said that this could indicate the placenta isn’t functioning properly, which could lead to the baby being born premature.
Any updates Jennifer?
I am going through this exact thing right now. We just got our NIPT results today. Baby is at a 40% chance of having trisomy 13. I declined the amnio because of another high risk issue so we are waiting until my 20 week anatomy scan to confirm. I truly hope and pray we have the same outcome as you. I’m 12 weeks today so it will be a long couple of months.
Hello Liz,
I wanted to reach out to see how things turned out. I am in the very same boat!! I was given news today I’m positive and my husband doesn’t want the to have other test and we will lean on faith. Please share with me your story!!
Thank you so much!!
Hi, thanks for sharing your story! We went through 4.5 years of IVF – 2 rounds of ivf & 8 transfer. We had never been told in the previous 7 transfer that we had a positive pregnancy which I think made it a lot easier on myself and my husband as I would just get my period as normal and before the fertility doctor had time to call with the news of a negative pregnancy. With the 2nd round of ivf we were lucky enough to be able to afford PGT testing! One came back abnormal, one came back with normal & trisomy 13 and one came back with no reading due to not enough cells to be able to read and that little embryo gave us our first very healthy, cheeky, smart little girl. My whole pregnancy I was a nervous wreck but with the care & love of our fertility doctor she did everything she could to keep my nervous & stress levels down. I’m sure you can understand why I was this way. So yes a very happy ending to a long journey
Our next step is to decide if we transfer the embryo with T13 or dispose of it. My husband and I are ready to try for another one and while we have this precious embryo who would be loved just as much as our little girl we are unsure what to do!
Our result was 60%normal & 40% abnormal. They are more than happy to transfer the embryo as they have seen positive results but we also understand what else the outcome could be.
What is your opinion on 60% normal & 40% normal with success.
Georgie 🙂
I am going through the same. However mine PPV is 53% chance of false positive as I am 39 y/o. I am waiting 2 wks for amnio. And then another 2 wks for results. This is horrible. I already had 3 miscarriages so I am assuming it is not a false positive but the baby looked so perfect on my 14 wk scan 😔 thank you for sharing your story. It gives me some hope for sure.
Any updates Sarah?
hi my name is makayla and i just recieved news yesterday that my nipt test results came back positive from a 3rd part testing but my nipt from my dr office came back this morning and was negative! they didnt know they had already tested me and the results from them were good but the other one from another place was bad,does anybody know what this could mean??
Hi Makayla,
Positive for what trisomy? what has happened since your post?
Makayla, Is there any follow-up posts we can see? It is important to share this stuff with others as it keep them positive.
Hi – I wanted to add my story – as I read these posts a number of times when I received what ultimately turned out to be a false positive for trisomy 13 following the harmony test. I’m based in Ireland. I did the harmony test at 12 weeks and it showed high risk of trisomy 13 – my scan was clear and the ob suggested a 20% chance the test was right and 80% it was wrong. Which at the time didn’t provide much comfort. I had to wait till 15 weeks for the amnio and when I went to have it the pregnancy hadn’t fully fused and the doctor wanted to wait another week to do it. I did it at just over 16weeks. They had to send the results to the UK and it took 4 days to get the results (should have been 3 but there was a delay) thankfully all came back clear. I wanted to add this as a positive story for anyone else – as I found very few stories of false positive when I was received my result. Hopefully it gives someone else some hope.
Thank you for your story. I too took the NIPT harmony test and was high risk for T13. I go in tomorrow for a CVS and I will be 12+6 weeks. I’m 36 years old and my ppv was 26%chance of baby having T13. I pray I have a positive outcome like you and Brittney because this is my first pregnancy . Thank you for your story.
Thank you for your story. I too took the NIPT harmony test and was high risk for T13. I go in tomorrow for a CVS and I will be 12+6 weeks. I’m 36 years old and my ppv was 26%chance of baby having T13. I pray I have a positive outcome like you and Brittney because this is my first pregnancy . Thank you for your story.
Praise God, baby girl is ok she doesn’t have trisomy 13. Next I have to get blood drawn to check for Spina bifida when I am 16 weeks.
This gives me hope I got told today my chances are 27% I have an amnio scheduled so praying for good results!
It brings me such a positive comfort knowing how much god works in marvelous ways. I’m currently 18wks and my NIPS came back positive for t21. I have been trying to keep positive and telling myself self baby boy is ok happy and healthy . On Monday we have our genetic consultant meeting I am worried but Im hoping for good news after doing the amino test . It will be challenging and the waiting on the results will be uneasy but I do believe that god is good he has been with me everyday . I do hope and pray that my results is a miracle and it’s negative will keep the blog updated .
I am in the same agony right now. I had my first nuchal translucency (NT) ultrasound, and the results showed my sweet baby is measuring at 3.9mm, the normal range is about 1mm-3mm and anything over 3.5mm is a high risk for trisomy 21, 18, and 13 or a major cardiac defect. I am waiting on cfdna blood results that will come back this week, but I’m in deep in grief and anxiety. All I want is a healthy baby. This is my first ever pregnancy. I’m 12 weeks right now. If anyone sees this, please pray for our little family.
I am in the same boat, 14w pregnant and NIPT results show 31% chances of Trisomy13. I am having an amniocentesis Dec 28, 2021. Praying for my baby boy to be healthy. Praying for a false positive…..! This waiting though is killing me.
Hello SheeryD,
I have heard exactly the same result as you yesterday. My result indicates 38% chance of Trisomy13. I am very worried. I will see a doctor tomorrow.
Have your amniocentesis results arrives?
Thank you for this story. I too have a similar story. I am almost 19 weeks pregnant and just got the results that we have an 11% PPV chance of Trisomy13. I begged my doctor to give me some kind of hope but he essentially told me these tests are almost always right and that we would need to prepare ourselves for some hard decisions. The genetic counselors haven’t even called me yet and I’ve been dealing with this for 2 days now (the longest 2 days of my life). Honestly, I thank God for Google and for stories like yours because they’ve educated me so much that these tests are just screenings and not diagnostic and we won’t know anything until we get the other tests, and then we will deal with it. But I have hope that our baby will also be healthy. Please just pray!
My wife just got nipt results today and baby tested positive for trisomy 13. She’s losing it but I’m trying to be optimistic. She’s only 30 and we have one healthy 2 year old girl. Speaking with the genetic counselor tomorrow. Would anyone recommend the CVS test? My wife can’t think about waiting another 4 weeks for amnio. Is cvs just as accurate? Appreciate any help.
Thank you so much for writing this. This is my first pregnancy and my husband and I have been trying for three years. Last night we got the positive result for this with a 11.8%. I’m terrified. It’s a miracle we got pregnant and found out it’s a boy and then this. Reading your story has given me so much hope. You have made this easier for me. We now have to wait a week for the specialist to get this test done. We would love to have some prayer warriors for us! Thank you again!
Hi Alysha! I am so glad that this post gave you hope! I’d love to pray for you guys as you go through the next week of worry. My false positive baby boy will be 5 tomorrow – take hope in God that He will see you through this season. Much love!!
I too am dealing with a positive trisomy 13 result from NIPT testing. This is our first pregnancy , and we have found out we have a little baby girl. From what I understand after reviewing the lab results our PPV is 11.8%. Although this percentage seems low , we are still terrified. We are praying for a false positive and ask that you pray for us as well. We meet with a genetic counselor tomorrow and will proceed with CVS testing immediately afterwards. I ask for peace in the next few days while waiting on these results. I pray that this test is a false positive and we can go on and live happily ever after with our baby girl.