High risk result for Edwards’ syndrome or Patau’s syndrome.

[coffeeandcake91]

Hi all,

I’ve just been told the results of the screening test.

Results for Edward and Patau have come back high risk 1 in 34.
Low risk for Downs 1 in 170.

12 week scan looked fine and Nuchal Translucency was 1.8mm. I’m 32 years old.

Option 1. No further testing, continuing pregnancy as normal
Option 2. NIPT - with high chance/low chance (they’ve said can be false positives/negatives
Option 3. Diagnostic test, needle test - 1:100 risk of miscarriage

I’m still quite surprised so just processing all this and reading up about the options.

Could you please tell me your experience if you were for either option 2 or 3?

I’m leaning toward 3 but afraid of the miscarriage.

Also were your results accurate and how was baby?

I’m sorry for all the questions, my minds in pieces. TIA.

I'm so sorry for your news. You must be reeling, I know I was. Although it was many years ago now, I went for the diagnostic test. I felt that it would be too hard to continue with a pregnancy that was going to end in a baby who was highly unlikely to live (Edwards was shown up by the nuchal scan), so I needed certainty. It was confirmed by the needle test. I went on to have a further, very precious child. Just remember that you are stronger than you think. Good luck in whatever you decide.

Sorry to hear about this. I went through the same 16 years ago although no NIPT option then.
I wanted to let you know that the 1 in 100 miscarriage risk for amnio is a national figure. There is also a hospital figure. I found out that the person who would be doing mine had been doing it for 7 years without any miscarriages so this helped me to make my decision.

Thank you for sharing this. Is it ok for me to ask was your baby found to have the syndrome?

No she does not have any genetic conditions and is now a healthy 16 year old studying A levels

I went through this 2.5 years ago. The baby had a high chance of DS. We opted for NIPT at 12 weeks which came back with low chance for all three syndromes. However, at 20 weeks the baby was measuring very small and after speaking with the consultant they recommended doing Amnio. The results came back clear and we have a beautiful 2.5 year old. NIPT is only a screening test and not diagnostic. I would definitely choose the diagnostic test in the future should I need it again as I just couldn't live with the uncertainty and I'd like to know and prepare for what's to come.

I agree with @Bohoboo , check out your local hospital's stats and don't be afraid to ask who will be performing the procedure and how many years experience they have.

I’d do a NIPT first and then, depending on these results, decide whether or not to do an invasive test. My NIPT just came back with a 1:10,000 risk and I feel reassured. I’ve been advised that an invasive test is not needed or recommended in this case.

I had a CVS, as I was an older mother. Don't be too scared by the supposed miscarriage risk, remember that most pregnancies that have invasive testing are probably already at greater risk.

Hi there

My NT was 8mm, so it was immediately obvious baby was poorly. My combined bloods were 1 in 8 for T21, 1 in 5 for T13 and T18. I had the NIPT, and it came back high risk for Edwards. It is looking at baby's DNA in your blood. So it can be a false negative, but I don't think it can be a false positive, as it is picking something up.

We didn't proceed with the CVS as baby was clearly very unwell and wouldn't have made it. We had a TFMR at 14 weeks and a post mortem confirmed T18, with exomphalos - organs on the outside of its tummy, often seen with T18.

1 in 34 is obviously better odds, I would probably have the NIPT and then the CVS or amnio. I am now 5 weeks pregnant again and will have the NIPT and then make a decision on any further diagnostic testing. I believe the risk of miscarriage from these tests is overplayed.

Option 3.

I had high risk with my son who is 2 for Edwards and Pataus. I went for the NIPT at 15 weeks and all came back clear.

It turned out I had Low Papp-A which was discovered in the test I had at the hospital which will flag a potential issue. I was something like 1:47 chance

@Fawklight I did think that, but then I had low Papp-a with previous 2 pregnancies and wasn't high risk on the combined test.

I've really struggled to sleep last night. And mentally preparing myself for bad news.

I've booked the amino for the 18th when I'll be 15 weeks and 2 days, but thinking of booking a private NIPT just for that peace of mind I want to know what the results would be on that.

I think it is good idea to do amnio or cvs at this stage, better to know now than later. I have friends who had similar high risks and then baby was completely fine.

I have also heard that in reality the risk (especially before 15w) is lower than 1 in 100 for miscarriage as it takes average across the world and in the UK hospitals tend to be much better.

I'm currently 22w and we discovered abnormalities and had to do amnio at 20w. Still waiting for results but now I think if I knew it could be this way I would have done amnio at the start of pregnancy. It is just too painful to face it later on and risks are higher.

Good luck, really hope you get good results!

We did amnio, the risk is much lower than stated if you read the research and NIPT is less accurate for T18 and 13. We were low risk at 12 weeks but anomalies picked up at 20 weeks which is the most common way T18 and T13 are diagnosed.
my daughter did have T18, we continued the pregnancy and she died partly due to the hospital at 3 months.
I thibk the main advantage of CVS/amnio is you know quicker and can get to either an earlier termination or decisions (and major battles) about treatment.

@coffeeandcake91
I understand. I got scared with mine. I had so many what ifs going through my mind at the time I ended up being signed off work.

Here if you need us.

You can't have a CVS until 11 weeks, and you can't have an amnio until 15 weeks, at least.

I am so sorry for your loss.

@sandberry I'm so sorry you lost your little one xx

I called the screening department and asked for the results of the hormones

0.16 low Papp-a
0.37 Hcg

So both quite low. Papp-a I was expecting to be low (I seem to have placenta and growth issues with my babies).

Would the hcg have been higher if everything was ok?

Hope you had the results you want. Hopefully you don't have to wait much longer!xx