High risk result received, given options, minds going mush

[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.

It's understandable your brain is racing. Take some time and breathe. It helped me to think of percentages rather than ratios, around 3%. The chance of miscarriage for the aminocentesis is 1:200 now and that's 0.05% chance.

My results were exactly the same for Edwards (I can't remember DS score). I opted for the NIPT as it was just a simple blood test. It's not 100% accurate but it is more accurate than the initial screenings.

My results came back less than 1 in 10,000. Baby was 100% perfect and still is a perfect toddler.

Think about what you want to do. For me it was an easy choice to do the NIPT as it was just another blood test. Take it one step at a time.

Firstly I'm so sorry you are going through this, the waiting was absolute hell so I really sympathise. It comes out of the blue when the scan seems to have been OK. Similar here, I was 1 in 80 for Edwards/pataus. We had the NIPT which was low chance. What got me through was a chat with the screening midwife, she advised that with these conditions especially there is usually (I say this tentatively because there will be some cases who didn't) there is something concerning seen on a scan. So the fact nothing was noted is massively reassuring. I know NIPT is not 100% but it's pretty close and she said that false positives are more likely than negatives.
Also amnio had to be done later so more of the awful limbo while waiting.
I've not had the baby yet but at 38 weeks with nothing to suggest otherwise I am confident that the NIPT was accurate.
Wishing you that things turn out well and you can get through the next few days x

Also the ARC have an amazing helpline I'd recommend giving them a call if you need someone to talk it through with

It depends whether you’re happy with the chances are, or whether you want to know.

My sister’s results came back with 1:10,000 for Down’s syndrome. Her DS was diagnosed with Down’s syndrome at birth.

if you want to know, conclusively, one way or the other, the only option is option c.

When I was pregnant with DD she was 1 in 17 for Downs Syndrome. I had the NIPT and although the wait to find out was awful, it came back as 1 in over 50,000 chance and she was born perfectly fine.
If the NIPT had come back inconclusive or high risk, I would have had the amnio.

Be gentle with yourself. Sending you lots of positive thoughts.

One of DTs was high risk for downs (something like 1:36). Risk of miscarriage with twins is higher so consultant advised nipt because its non invasive, and did a detailed anatomy scan. A high risk result and or any issues on the scan and I would have had the amnio.

Nipt came back low risk. I had 3 fetal cardiac scans and a mri for good measure (!) and was told until delivery that we may only take one healthy baby home.

DTs will be 4 next month and are both completely healthy.

In your situation I would go for the amnio.

Not the exact same scenario, but I did have an amnio due to anomalies found at the 20wk scan (and probably would in your situation too for a clear yes/no answer). Unfortunately we ended up deciding to TFMR as our baby would have died at birth due to her massive physical issues. The amnio was absolutely fine for me and baby had no negative impacts from it either.

I’m so sorry you are facing this uncertainty and hope it all works out for you. I second calling ARC for support, they are fantastic.

Hi, sorry to hear you're facing this, this is just my experience but hope it helps, I am pregnant with twins
12 week scan - NT all fine and no issues found
Several private scans - no issues and all fine
NT tests came back 1:750 & 1:1300 so no flags there
20 week scan - twin 2 shows small femur, could be a marker for downs.
21 weeks - NIPT - came back high risk for downs
Transferred care to Kings college,
Amnio at 28 weeks, downs confirmed in twin 2
Weeks 21-32 weekly scans, twin 2 is not well at all, and is very poorly.
TFMR of twin 2 at 32 weeks as his survival rate is basically zero.

It's been a horrendous journey but having the clarity is what has saved me. If you are in the UK and can transfer to either Kings or Guys and Tommys then I would. We've been seen by the top people in the country and have been treated with dignity and respect.

Hey @coffeeandcake91

I’m in a similar situation waiting where I’ve been given a 1 in 2 chance of Down’s syndrome at my 12 week scan. It was Monday afternoon when I received the call from the midwife to discuss the combined test results and she said that if I chose the NIPT I would have to go the next day to give blood sample or wait until next Monday as they only send tests to the lab every Monday and Tuesday. I didn’t have much time to process so I chose the NIPT. I am now going through the roughest period of my life waiting for the results that take 7-10 days to come out. The more I think of it the more I tend towards the decision of doing the CVS or amniocentesis no matter what the NIPT results are as I realized I need to know for sure. A low chance NIPT result will only tell me the chances and won’t give me the peace of mind I need at this point.

(Update).

Hey, I hope you're doing well. It's such a frightening time.
Due to mine being high risk for Edwards' & Patau's we opted for the Amnio because the NIPT isn't as accurate in detecting Edwards' & Patau's as it is in detecting Down's.

We had the amnio on Monday and got the results on Tuesday. Baby doesn't have any of the 3. Due to the scan not showing any structural anomalies we were told we weren't going to get tested for any further chromosome abnormalities. So we won't receive a microarray that I've heard people talk about receiving on here after an amnio. I'm going to call ARC on Monday as I'm not happy about this.

I think just try to keep as busy as possibly. If you do get a high risk on the NIPT you could get the amnio anyway. But otherwise it would be reassuring showing low risk as it would be based on that sample and no other stats.

The miscarriage risk is actually lower than reported now.

I'm living abroad where the only test I did was a 'needle test' - and as anxious as I was before, completely pro it now!