Amniocentesis Test After Harmony/ NIPT Test

[HannahMarie80s]

Hello all 🙂
I am new to the site and wondered if anyone could share their experiences with me or advise me. I just turned 37 last month, and me and my husband have had 2 miscarriages in the past year, very early on, neither making it to 12 weeks. We were overjoyed to fall pregant again a few months ago, had no spotting this time, and had a lovely first 12 week scan with a strong heart beat apparently. I then got a call this Monday from the screening nurse to say that unfortunately I had come up in the high risk category for downs syndrome (1 in 84 chance), I was understandably very scared, and she explained that although I had scored on the low side of all the high risk markers, these coupled with my age had pushed my risk up. She gave me 3 options; do nothing and wait and see, go for a diagnostic amniocentesis test which will tell us 100 percent either way but carries a small risk of miscarriage, or have a harmony test (nipt) which is just a blood test which is not diagnostic but is 99% accurate, much more accurate than the 12 week screening test and has no miscarriage risk. We decided to go for the harmony blood test as I read good things about it and we didn't want to risk another miscarriage. Got the results back today, and absolutely devastated to have been told we are high risk. And shocked, we were told before the harmony test that our markers were still quite low, the fluid neck measurement was only 2.9, and I'm told high risk is 3.5. Also I know I'm older at 37, but I eat very well, have always exercised, and was told by the midwife I am the perfect weight for a low risk pregnancy. We have several friends who are having there first at 40 and 41 and had no problems. Now I have been given an appointment to have an amniocentesis diagnostic test (needle in the stomach) to give us a definitive yes or no. But the screening nurse has been very upfront with me and told me to expect the worst, as only 10 percent of woman who have a positive harmony test, go on to have the diagnostic test and get good news back from it. She basically said it is now 90% likely to be bad news. I am not asking anyone to sugar coat this for me, I can cope with the truth. But does anyone have any experience in this, or outcomes either way? Xxxxxxx

Hi OP, I am 41 and just now waiting for my NIPT results.
I'm not in the same position right now but I didn't want to read and run. It sounds so stressful and worrying, I'm so sorry you're going through this and am sending lots of positivity that all will be OK.

One thing I do want to say is that, regardless of outcome, it's nothing you have done. 37 is not old, it's nothing to do with your weight or lifestyle etc. Please don't be so hard on yourself.

Hi there

Firstly I am so sorry you are going through this, it's just not fair is it. We tried for 18 months before I finally fell pregnant. I had 2 good private scans and was devastated to get the news of a 8mm NT at our 12 week scan. My CUB screening came back at 1 in 8 for T21 and 1 in 5 for T13/18.

I had a NIPT, unfortunately we'd missed the cut off for tests that week so had to wait 12 days between that 12 week scan and the results of the NIPT. It came back high risk for T18.

I think what your midwife is saying is really realistic. I can't really work out how they can get false positives, as the test is looking at the baby's DNA in your bloodstream, but I guess it must happen if they are saying 90% chance they are right.

I was offered a CVS but to be honest, it was obvious baby was very unwell and the Fetal Medicine Consultant offered a TFMR to start there and then. I didn't want to prolong the agony any longer.

We had a limited post mortem as the NIPT isn't classes as diagnostic and I wanted a definitive answer. It confirmed T18.

I was 38 during all of this, turned 39 a month after the TFMR. We started trying to conceive again after my period returned as I felt we had no time to lose. We were so fortunate to fall pregnant again after 4 cycles and I'm now 32 weeks pregnant.

Thinking of you, hope this helps and if you have any questions just let me know.

@sel2223 thank you so much for your reply. Please let me know how your story continues. We now have our amniocentesis test booked for 18th of September xx

@MrsScotland thank you so much for your reply. That is a really heart warming and positive story. I'm terrified we won't get another chance as I'm 37 now, but your story has given me hope. I just pray we get another chance like you xxx

Hi, I've been in your position and it's such a tough decision to make, however I'm quite shocked did your midwife really say it would be 'bad news' to have a baby with Down syndrome?

Ultimately it is your baby and your decision, I had all the same thoughts as you, I'm currently sat cuddling my 3yo with DS, I can't pretend things haven't been tough but she brings so much joy and love to our family and if I went back in time id still make the same choice. Please have a look into the realities of having a child with Down syndrome. I'd suggest as a first point of call Positive about Down Syndrome, they have a fb page, I think if you search PADS expectant parents you'd find it.

My heart really does go out to you and I hope I don't come across as judgemental, I don't know your situation and completely understand your right to choose. I just wanted to share another point of view

I was 38 when I gave birth to my first DD and 43 when I gave birth to my second. So while chances decrease, don’t lose hope. I feel that can affect your chances very negatively.

stress raises your cortisol and that is not good for the body. Not saying that to blame you just you need to take care of yourself, pamper and distract yourself even if you can only do it for short periods at a time.

I know the feeling of waiting for a test result, I had to do it twice. I could only distract myself for a short time (at a time), but I tried many times a day, a long book, a hot cholocalte, a walk, etc.

false positives with the nipt come from a vanishing twin that had the condition, while the remaining twin is fine or from dna from placenta (again probably coming from a lost twin) that is not the baby’s

hope all goes well for you and like the above poster said don’t reach any conclusion before you do your own research.