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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

High Risk Edward's/Patau's Twice Failed NIPT Amnio

7 replies

Laney212 · 15/01/2022 16:21

Sorry for the long post, but I just wanted to share my recent experience in case it helps someone else.

Just after my 12 week scan, and after telling people I was pregnant, I got a call from my midwife as the results from my combined test showed a 1 in 450 chance of Down's and a 1 in 120 chance of Edward's or Patau's. I am such a worrier at the best of times so my mind instantly went to a really dark place. I opted for the NIPT test so I could get a better idea of what was going on.

After a week or so from my blood being taken, I got a call to say the lab made a mistake and needed to retest. I was so sick with worry it was awful. When the results finally came back, the test failed and I needed to submit a new sample.

The new sample was taken and, again after a lengthy wait, I was told the test failed. My midwife called the lab and was told it was due to not enough fetal DNA being in my blood. The first test I was about 12 weeks and the second 14 weeks so this worried me as according to Google there should have been enough DNA in my blood. Unfortunately I also read that low fetal DNA can mean an increased chance of Edward's/Patau. I should also mention my PAPP-A was low too which means a small placenta and again, according to Googl, with Edward's/Patau's this can also be the case. Low DNA can be caused by a 'higher' BMI which isn't the case for me so it really seemed that my baby would definitely have either trisomy. I opted for an amnio as I really needed to know what as going on.

I am not scared of needles as such but the thought of this procedure really freaked me out but it turned out to not be as bad I feared. Not exactly pleasant but the dr and midwives made it bearable. We also got a really detailed look at our baby, so detailed the sex was very clearly on display!

The wait for the results this time was only 2 days and I am so grateful my wee boy got the all clear. It took six weeks from the start of my worry to the end and it was such a scary and lonely time. My husband was great but very much wanted to wait for the results before worrying - I am very much the opposite so it was a really difficult time especially over the festive period.

I just wanted to share this as I found a lot of helpful posts here but not a lot of people like me who failed the NIPT and I wanted to give hope to anyone in a similar situation as me.

If anyone has an questions about any of it, please feel free to ask or message me ❤

OP posts:
mummymia2022 · 15/01/2022 19:18

Just read this even though I’ve fortunately not been in the same position as you were but just want to say that I’m so glad all has turned out well for you! Xx

Laney212 · 15/01/2022 21:29

Thank you so much. Really appreciate it xx

OP posts:
Hairyfriend · 15/01/2022 21:34

Thanks for sharing OP and I'm glad all was well for you. When I had the NIPT, I was informed that having it done too early or having a higher BMI were risks or needing it repeated. I haven't heard of anyone with a normal BMI having the test fail twice like you though. Unfortunately my baby did have patau syndrome, but I was so glad to find out so early on. Best of luck.

1moretry · 15/01/2022 22:58

Thank you for this- so helpful.

I'm 41 and pregnant and I want to have this test.

TashieWoo · 16/01/2022 09:26

Thank you for sharing, I wasn’t in this position with my pregnancy but if I had been I would have found this very reassuring, even though I’m so sorry you had such a difficult and drawn out experience. I’m so pleased your baby boy is okay and best wishes for the rest of your pregnancy x

Tilly88 · 24/01/2022 14:40

Thanks for sharing. I'm really freaking out at the moment as going through similar.

I had my combined test which came back high risk 1-70 chance for Downs then my NIPT bloods taken a week ago. I was called today to say first one failed due to technical reasons and they would re run the rest with the blood they have but I have to wait another week for the results.

I've done the classic googling to try and find out what a technical failure is and from what I've seen it means there's an even more increased risk something is wrong. One website said 1 in 5 failed tests have an abnormality and my mind is just racing. I am a little overweight so I'm hoping this is the reason rather then there being an issue, still doesn't stop the worrying.

How did you cope with the waiting? What did you do to help pass the time? I've been signed off work with stress because it's all getting a bit much. I really hope I don' have to wait 6 weeks like you did! Glad it all turned out well for you in the end xx

Laney212 · 25/01/2022 10:48

@Tilly88 I am so sorry you are having such a stressful and worrying time. Waiting for the results is so difficult especially when the result takes longer than it should. I really struggled and had to take time off work myself.

The fact they are able to retest your blood is positive, as it means there was an issue with the lab, rather than your sample. They would ask for a redraw if they couldn't get answers so there is a really good chance you will get a result this time.

Please let me know how you get on. Sending you all the love ❤️

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