I've seen a lot of questions regarding non-invasive prenatal screening (NIPS) such as the Panorama, and I've seen many excited mothers and mothers-to-be tell others that the test is 99% accurate, which is completely understandable, given that Natera reports this statistic as well. Before this experience, I likely would have as well.
My husband and I have experienced the most stressful month of our lives, as our Panorama screening reported a 68% chance of our son having T21, or Down Syndrome. The blood sample was taken at 12 weeks, and we had to wait until week 16 for an amniocentisis. Our FISH, or preliminary results, were reported today; our baby boy has only two copies of chromosomes 13, 18, 21, and only one X and one Y. Our son's karyogram, or genetic map, will be available in the near future. I plan on hanging it in his nursery!
This means our positive result from Panorama is a FALSE POSITIVE. I have done extensive research regarding the reliability of NIPS, and other than the research paid for and conducted by Natera, research does not support the accuracy of this test in a mother that is not previously categorized as high risk. It appears that the positive predictive value of PPV of these tests for a 30 year old mother is closer to 50%. The reliability of this test only reaches 90+% when the mother is 40-45 years old.
At age 27, with no previous pregnancies, I was originally at a low risk for aneuploidies (an abnormal number of chromosomes in a fetus). I was told this test is 99% accurate. The 99% doesn't even describe accuracy, but sensitivity and specificity.
My original risk assessment was about 1:1,100, but being that the sample was taken at 12 weeks, my initial risk was reduced to 1:949 (closer to that of a 30 year old), given that many chromosomal abnormalities result in miscarriage early in the pregnancy. The fact that initial risk is reduced based on gestational age is also not communicated to the patient. The initial risk is combined with what is seen in the placental DNA and your risk is reassessed. It is important to not that none of these screenings look at the DNA of the fetus, but of the placenta; only an amniocentesis can deliver actual fetal DNA karyotyping. The placental DNA is fragmented, and represents a percentage of the entire DNA of the placenta; in my case this was 2.9%, a very low fetal fraction (Natera's term, but should be referred to as placental fraction); the cut off is 2.8% with Natera, and 4% with other NIPS labs, which use a different process. It is worth nothing that according to a perinatologist, and a genetic counselor at Natera, a 68% is uncommon, but I've also read numerous accounts of a 99% (the traditional reading) being a false positive as well.
If you're interested in learning more, there are many studies available for free online, and nih.gov is a good place to start. Another valuable resource is downsyndromeprenataltesting.com, a website run by a lawyer named Mark Leach who practices health law, and has a master's in bioethics. He attends and presents and at domestic and international conferences for medical personnel in the field of obstetrics, genetics, and bioethics. He also has a daughter with Down syndrome.
Yikes, what a stressful time! Glad to hear baby is healthy and you were able to discover that Statistics can be scary (and be changed to shape what results are needed!)
So sorry you had to go through all that stress and I'm so glad to hear your baby is healthy! Thanks for sharing, this is really good info for everyone.
Feb'16 September Siggy Challenge: Favorite thing about fall
Thank you everyone! I know that while I was waiting, it was great to read the stories of other women, as it helped me to not lose all hope (not that it didn't happen at times, I'm human and hormonal). I wish we had known all of this before electing to do a NIPS, but my hope is that this information will be helpful for other mommies!
Thanks for sharing; I know this will be helpful for others out there. I'm so sorry you went through all the stress and anxiety just to find out your baby was healthy, but I'm glad in the end you got the best possible out come!
First, I'm sorry you had to go through that experience, and I'm glad to hear you got some positive news in the end. It's always great to hear about positive outcomes around here!
Second, thank you for giving us all the details of your experience and research- I was on the fence about getting the testing done since I'm low-risk, and your experience makes me think I may have made the right personal decision not to have it done.
I couldn't do these type of tests since they apparently aren't accurate at all for twins. But thanks for sharing your personal story! Prior to knowing I couldn't do these tests with twins, I had been researching it and came across stories where people were not well informed that these tests could be wrong. I read horror stories where people chose to end pregnancies that were never confirmed with an amnio or later proven to be wrong, that like you, the baby was actually healthy. Congratulations on your good news! I'm sorry you had to go through the extra worry.
The info can certainly be confusing. Istr that for low risk women the risk of a false positive is about the same as their risk based just on age. So in practice is not really reassuring at all. Panorama is supposed to have a lower false positive rate. If you do a paternal saliva swab this reduces it further. I'm high risk and for me the test was totally worth it. But then it was negative, so not sure how I'd feel of it had been positive! Sorry you went through such a stressful time. Glad it turned out well in the end.
Thank you for sharing! I'm sorry you had to go through all that stress. I decided not to do any of the genetic testing (materniti21, panorama, etc) because I had heard more and more of false positives and that the companies use marketing strategies to mislead women. I had it done last pregnancy due to an elevated risk from the NT scan, and decided not to do any testing this time. I was surprised by the number of women on here having it done /thinking of having it done even with no elevated risk. It can be a unnecessary stress!
The info can certainly be confusing. Istr that for low risk women the risk of a false positive is about the same as their risk based just on age. So in practice is not really reassuring at all. Panorama is supposed to have a lower false positive rate. If you do a paternal saliva swab this reduces it further. I'm high risk and for me the test was totally worth it. But then it was negative, so not sure how I'd feel of it had been positive! Sorry you went through such a stressful time. Glad it turned out well in the end.
I think it's original application, as a screening for already high risk women is it's proper application. The new trend is for it to be offered to low risk women, a population in which is efficacy isn't demonstrated.
Thank you for sharing! I'm sorry you had to go through all that stress. I decided not to do any of the genetic testing (materniti21, panorama, etc) because I had heard more and more of false positives and that the companies use marketing strategies to mislead women. I had it done last pregnancy due to an elevated risk from the NT scan, and decided not to do any testing this time. I was surprised by the number of women on here having it done /thinking of having it done even with no elevated risk. It can be a unnecessary stress!
Like I said to another user, I think it being used an a second tier screen in between NT/blood serum and amnio is a good application, but the way in which it was used in my case was irresponsible.
I couldn't do these type of tests since they apparently aren't accurate at all for twins. But thanks for sharing your personal story! Prior to knowing I couldn't do these tests with twins, I had been researching it and came across stories where people were not well informed that these tests could be wrong. I read horror stories where people chose to end pregnancies that were never confirmed with an amnio or later proven to be wrong, that like you, the baby was actually healthy. Congratulations on your good news! I'm sorry you had to go through the extra worry.
I read these horror stories too! Can you imagine being told your baby has a chromosomal abnormality inconsistent with life? And imagine getting that result with little to no time to receive amnio results to be within the window of legal termination?
Thank you for sharing! I'm sorry you had to go through all that stress. I decided not to do any of the genetic testing (materniti21, panorama, etc) because I had heard more and more of false positives and that the companies use marketing strategies to mislead women. I had it done last pregnancy due to an elevated risk from the NT scan, and decided not to do any testing this time. I was surprised by the number of women on here having it done /thinking of having it done even with no elevated risk. It can be a unnecessary stress!
Like I said to another user, I think it being used an a second tier screen in between NT/blood serum and amnio is a good application, but the way in which it was used in my case was irresponsible.
And I forgot to add - I'm so happy my post has helped someone! This is really all I wanted.
I went through this whole fiasco too. It was absolutely horrible!!!!! As a FTM or anytime mom for that matter this is just something you simply do not want to hear. After my NIPS screening came back with a suggest high risk of downs I like you had to go in for additional testing. I did a free cell DNA test so it was them taking several fairly large vials of blood. I wish I would have known that I was also going to have to meet with a genetics counselor that same day as well so I could have brought my hubby with me for support. I swear those people are full of doom and gloom. They put me in this tiny jail cell of a room and proceeded to tell me all of these awful things that could happen to my baby. It wasn't a very positive conversation. So as I'm sitting there crying they ask if I'm ok! I'm like no I'm not ok!!! So not only is this my 1st baby but my hubby and I had been struggling to conceive for years so this is our miracle IVF baby and now you are telling me that our baby might have a potential life long disability or even worse might not even live. I said we can handle the downs because we would still have our sweet perfect to us baby but to think that our baby not might not make it is just devastating! They in turn said well one of the pluses and positives about this text is we can 100% confirm gender. In which I replied by saying that might be a positive for most but we are waiting to find out until birth to find out the gender of our baby so you might wanna change your spiel about this being a positive. The next 2 weeks waiting for the results to come back were fill with tears and my husband and I trying reassure each other that everything would be ok. In the long run all the tests came back normal and I am carrying a perfect healthy baby. I still wouldn't wish this false positive on any mom or family. I'm still shocked that they are allowed to use this kind of testing based on the horror stories I have heard about all the false positives. I wish there were a better method!!
Re: Our False Positive on Panorama
Second, thank you for giving us all the details of your experience and research- I was on the fence about getting the testing done since I'm low-risk, and your experience makes me think I may have made the right personal decision not to have it done.
Congratulations on your good news! I'm sorry you had to go through the extra worry.
I decided not to do any of the genetic testing (materniti21, panorama, etc) because I had heard more and more of false positives and that the companies use marketing strategies to mislead women.
I had it done last pregnancy due to an elevated risk from the NT scan, and decided not to do any testing this time. I was surprised by the number of women on here having it done /thinking of having it done even with no elevated risk. It can be a unnecessary stress!
We did the paternal swab.