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Antenatal tests

NIPT result - high risk Edwards Syndrome

7 replies

Dia12 · 16/07/2020 22:30

Just as title says I got my NIPT result back today with high risk for Edwards syndrome. NHS combined test was 1:136 and NT was 2.3mm. Needless to say I'm devastated.
The MW told me the test is 97% accurate for Edwards and highly likely that amniocentesis would confirm this result. Edwards syndrome is not compatible with life so I would expect to either miscarry, have a still birth or a baby that dies soon after birth.

I'm 13w and so will have an agonising 2 weeks before my amniocentesis at 15+3. Needless to say I'm absolutely devastated and DH is even more broken than I am. Not sure how to continue with a pregnancy that seems doomed. Not sure what I'm asking here, just if anyone's experienced similar situation?

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NG86 · 17/07/2020 07:13

@Dia12

Good morning.

Sorry to hear you are here.

I also had a high risk NIPT for T18. My NT was 1.7mm but I had low Papp-a which gave me a risk of 1:342. This was higher than my age related risk so I had the nipt. When I got the high risk result I was also told that it was highly likely that the amnio would confirm it. All the scans I had up to that point had shown no abnormalities. I had the amniocentesis and the fast results and full karyotype came back negative for all trisomies. It appears I had a false positive on the nipt for T18, and it's potentially confined placental mosaicism, as the nipt tests placental dna and not fetal dna.

When I got my high risk result for T18 I did a lot of research into my results. It appears that although the sensitivity of the nipt is high, the positive predictive value of the test for the rarer trisomies is much lower than this. In fact, in some cases it is only correct 36% of the time. My own age related PPV for T18 was only 30% (there is an online calculator).

I have since found numerous (I have counted 25 so far) other examples online who have also had false positive nipt results for T18.

It's not to say that my outcome is always the case, but it is a possibility.

The stress and anxiety that the high risk screen with the nipt has given me has been immense. I am having counselling for the anxiety.

The amnio will give a diagnosis. Good luck. It's horrible being in this place.

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SunshineCake · 17/07/2020 07:16

Not all babies with ES die before, at or soon after birth.

Is your baby a boy or girl?

I am sorry your scan brought difficult news.

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Dia12 · 17/07/2020 10:04

Thank you for replying @NG86 and giving me some hope. I'm grateful for you sharing your experiences. It's wonderful news that you got a clear result with the amnio.
I didn't sleep much last night so ended up trawling through all the articles of low PPV and also stumbled upon the calculator. Most of the personal stories of NIPT+ for T18 were really sad.

It's reassuring that you have read about some positive ones. The calculator gave me a PPV of 70% and I think that's due to my age (40).

I want so much to live in hope but I really dare not as we've already had such a long struggle with infertility I feel like this is the straw that will break me.

I don't know the gender @SunshineCake

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NG86 · 17/07/2020 10:12

I’m so sorry to hear about your struggles. It’s so heartbreaking to get the nipt results. I completely distanced myself from the pregnancy when I got the results and expected the worst. It’s a protective mechanism.

I spent hours and hours on the internet researching. I found it hard to believe the amnio results. I am still anxious about accepting them.

But nothing is set in stone until the amnio. If you want to PM me, please do. It’s such an awful time.

Wishing you the very best and I really hope you also get a positive outcome.

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Scotinportugal · 17/07/2020 14:41

Hello op!
I don't have any experience of this but I really didn't want to read and run.
I've read every thread possible on MN (or feels like) on antenatal tests. I got into one a few weeks ago while I was also waiting on screening results, it was women who have had babies with edwards syndrome and some of them live to be much older than babies! I believe there's a few Facebook support groups as well.
Take your time, read and research as much as you feel like, and make your decision when you are informed.

Sending you lots of hugs and positive thoughts

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Chrysanthemen · 20/07/2020 20:55

I’m really sorry you have had such difficult news.
I found out I was expecting a daughter with Trisomy 18 at my 20 week scan, 5 years ago. ( NIPT wasn’t really discussed back then)
It was my first pregnancy- and after the initial heart break we found comfort and a sense of regaining control by continuing the pregnancy.
This was openly discussed and supported by the medical staff at our hospital.

This child had been much wanted and was already much loved. Those feelings didn’t suddenly change.
I took some comfort in the thought that a central role of being a parent is unconditional love and acceptance of the child you have. And that was not taken away from us, we could still be those parents.
obviously it’s impossible to predict the individual outcome and preparing for all those different scenarios was difficult.

Our daughter survived the birth and needed no immediate medical care.

In fact it was a beautiful and peaceful birth. Chances were high she wasn’t going to make it so I decided against any monitoring- I wanted to just focus on the birth.
We had talked in detail to the head of the neonatal unit who had understood and supported our wishes for our daughters short life.
She was entitled to some help e.g. some oxygen in the first minutes to get her started (not necessary) and palliative care if needed. But no interventions or harmful procedures. No surgery, no intensive care. I’m also a doctor, so I felt somewhat prepared for fast and difficult decisions.
We had a 1 minute plan (hold and love) a 1 hour plan (get christened) and so on.

She stayed for almost 3 weeks and was the most peaceful little being. She was much loved by family and friends and touched all our lives in a profound way.

She passed away at home.
We were very lucky to have health professionals who gave us excellent care and guidance as well as supportive family and some amazing souls we met along the way.
Most importantly as a couple DH and me felt very similar about our daughter and found a way to communicate those feelings.
We have since had 2 more children.
There have been difficult times too- grief felt lonely at times, but there have never been any regrets.
I wish you all the best!

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Dia12 · 21/07/2020 11:50

Thank you so much for sharing your experience @Chrysanthemen.

You're so incredibly brave having the courage to go through with delivery and having to say goodbye to your child. I've read your post a few times and i can't help but cry. Although it sounds as positive an experience as it can get, I would not have the strength to go through it. But I guess you never know what you have the strength for until you have to do it.

It's comforting to know that you had children since then. This is the only hope that's keeping me going right now.