NIPT test positive for Edwards syndrome but NT combined test low risk

[Vpri]

Hi, I had my nuchal translucency combined test at 12 weeks which came back low risk (1:100000) for all 3 trisomies but we anyways decided to go for NIPT just to be sure. Today I received my NIPT test result which says very high chance of Edwards syndrome (trisomy 18). Needless to say we are very worried and I have been crying ever since I got the NIPT results. It is really strange that the combined test showed very low risk. Midwife has booked an anomaly scan for 24th Feb, followed by amniocentesis if needed. I'm dreading it. I'm 36 and this is my first pregnancy. So was over the moon when I conceived. I was wondering if anyone has had a negative nuchal translucency combined test at 12 weeks and then a positive NIPT test? If so, were the NIPT results correct or the combined test? What are the chances that the baby does not have Edwards?
Thanks in advance for all the replies

Oh OP, I’m so sorry. Very sadly, the NIPT is far, far more accurate than the NHS tests.

The amino will give you the definitive answer, but I’d prepare for bad news.

Please feel free to post wherever you wish, but there is an ante natal tests topic section on MN where people with more experience might be able to give you more support, and the benefit of their first hand experience.

All the best.

I am very sorry you are going through this. As I understand it the NIPT is a far more accurate test but only an amniocentesis or CVS will give a definite answer.

The wait is awful but it is best to talk it through with your midwife. You can drive yourself mad trying to look for answers that can only be found by the test.

Sending much love

Sending you hugs and 💐

@GreenWillow @SmallYappyTypeDog @tenlittlecygnets really appreciate the support. I cannot begin to describe how difficult it has been since I got the NIPT results. I have been reading so much about it and I know you're right that the definitive answers can only be given by further tests. I just don't know what to do until I get all the tests done. It's so hard to prepare for the bad news. The next few days are going to be agonisingly painful.

I’ve had an inaccurate nuchal translucency, but it was pre-NIPT. I had the Nipt with a subsequent pregnancy and my understanding is that it is as accurate as it’s possible to be without being an actual diagnosis, but I believe that’s almost a technicality. I’m so sorry, I know how awful it is to get bad news.

All you can do is try to relax for the next couple of days for the scan. Easier said than done, I know! Please let us know the result when you can. I truly hope it's good news for you.

Sorry you're having such a difficult time. I've had the NIPT myself and did a lot of reading up on it. It's very accurate for detecting Down syndrome but less so for the other trisomies. I have actually read a number of accounts where the NIPT did give false positives for them in fact. As hard as it is, try not to lose hope. Hopefully further diagnostic tests will give you a definitive answer and I will keep my fingers crossed for a good outcome.

OP I am sure there was another thread on her with a poster in a similar situation and the result was a false positive. It's not something I'd heard of before but maybe have a look around for that thread.

Thanks ladies! I know I should just stop thinking and somehow wait for the next two days for the scan to get a clearer picture. It's just so hard. I'll let you know how the scan goes. I feel this is so unreal.
@Didiusfalco thanks for sharing your experience. If you don't mind me asking, when did you find out that the nuchal translucency was inaccurate? Was it during the mid-pregnancy anomaly scan?

Hoping this link works for you OP

www.mumsnet.com/Talk/antenatal_tests_choices/3837501-Harmony-test-came-back-positive-Pataus-waiting-for-results-of-amnio

@traintrain thanks for this link. It does give me hope. Couldn't sleep tonight and don't know if holding onto this hope is just going to increase the pain later on. The link to the thread you posted was very helpful. The wait until tomorrow is just so painful

Hi OP, how are you doing? Hope you've managed to get some sleep.

I'd echo pp, ask mn to move this over to the ante natal tests board and you'll find lots of ladies with loads of experience better able to answer your questions.

Thinking of you for tomorrow

Hi all, I just wanted to post an update on my situation. The clinical pathologist from the lab which conducted my nipt called and told me they made an error in my report which said baby has a very high chance of trisomy 18 and that my baby's risk of having edwards syndrome is actually low. They kept apologising for the reporting error and offered to refund the fee I paid for the nipt. I still went ahead with the anomaly scan today at St Mary's in Manchester and the doctor said the baby appeared normal with no malformations. Midwife and the doctor at St Mary's were appalled at the error made in my nipt report. They said there are women who don't question the nipt results and don't even go for amniocentesis. They had 2 women who aborted just based on nipt results. So I thought about sharing my experience and letting women know that please don't abort just based on NIPT. Please confirm the diagnosis with amniocentesis. The doctor who did my scan told me nipt is good at screening for downs syndrome but not so good at screening edwards, patau's, turner, klienfelter's or any other syndrome. So, please always get cvs or amniocentesis done to confirm the diagnosis. In my case, it was a reporting error on the part of the lab (Nottingham University Hospital) which conducted nipt. They only double checked my report because I called them and asked many questions about their positive predictive value and told them my NHS NT combined test was normal. It is only then that they made someone senior look into my report and realised they made an error. They told me they have registered my case as a clinical incident and are investigating it and have assured me that they will make sure such a mistake is not made again. I hope sharing my experience will help others. Mine was a case of negligence on part of the lab at Nottingham University Hospital which would have resulted in me undergoing amniocentesis unnecessarily. Please always ask questions to understand why the lab results show you are high risk as it's your baby's life at stake here.

Glad you've got good news op. You must have been very stressed. Hope all goes well for you and baby now.

Very good of you to come on and update. You must have been exhausted from the stress of the scan today.

Oh my God, OP, so relieved for you. With my first daughter, I had the situation kind of reversed. I had declined the blood tests (this was 13 years ago, can't remember what was available then) based on the fact that the results wouldn't make a difference to whether I continued with the pregnancy. All good until anomaly scan showed a minor brain cyst that could mean a) nothing at all or b) trisomy 18. I was still within the timeframe for the blood testing, so went ahead. A more detailed ultrasound showed no other abnormalities but the wait for 2 more weeks for blood results were agonising. It came back as something like 1 in 48000 chance of trisomy 18 but I was terrified the rest of my pg as I didn't want to take the tiny chance of having an amnio and miscarrying a baby that turned out to be perfectly healthy. When I had my son, 5 years ago, my blood test results came back as 1 in 4 chance of Downs but he doesn't have it. I hope the rest of your pregnancy is blissfully uneventful!

Oh wow, I can't believe this happened to you! I'm glad everything turned out ok but the unnecessary stress you've been put through is terrible and like you say, you could have made a decision to end your pregnancy based on the report - it just doesn't bear thinking about.

OP whilst the fact that these kinds of errors are slipping through the net is unforgivable, I am so pleased there has been a positive outcome for you. I hope you can enjoy the rest of your pregnancy now.

Thanks everyone! I just wanted to spread the word that nipt results are not always accurate. Also, the doctor said besides Down's these tests are not that good at screening other syndromes. I just hope that women don't consider these tests as evidence that their baby has some chromosomal abnormality and then terminate the pregnancy. The only diagnostic tests are cvs and amniocentesis. NIPT does have a good number of false positives. I'm not discouraging people from nipt. Just want to raise awareness that always confirm the nipt report through a diagnostic test.

We had a similar thing happen to everythingbackbutyou. At the 20 weeks scan, all my blood tests had been fine but at the scan we were told my son had cysts on his brain 14 years ago. We had some extra blood tests but no amniocentesis was offered, I basically got told that because I’d carried him to 23 weeks at this point it wouldn’t be edwards syndrome. I was 19 at the time and naively just accepted what the doctors said. Thankfully everything was fine, but when I look back now it makes my blood run cold. Hospitals and tests can be wrong and should always be double checked @Vpri I’m
So pleased everything is ok and glad you double checked it’s so scary x

@katystar I agree. Any abnormal test should be confirmed before making any decision about the pregnancy. I can't believe they told you it can't be edwards just because you were 23 weeks. I have heard of cases where people had not seen any abnormality until late in their third trimester or until birth and then found out it was edwards or some other chromosomal abnormality. I'm glad everything was fine with you x