High risk for Down’s, Edwards’ and Patau Syndromes :(

[LFS1991]

Hi :(

Background: 2nd IVF pregnancy. 31 years old. Egg collection in 2019 when I was 28.

We had the call yesterday that my screening results showed high risk for all three main syndromes.

Down’s 1:86
Edward’s and Patau 1:35

Luckily we had our NIPT test this morning. They didn’t tell us the papp-a number or the hcg. They said that they don’t focus too much on it. I asked loads of questions such as “if you don’t focus on those numbers then what has put me in high risk for all 3?”

My scan last week was all normal, dates and size of baby were perfect, NT (fluid at back of neck) was way within normal range.

The wait for results next week is killing me already.

Has anyone had similar experiences and all has turned out ok?

Did you rely on the NIPT or did you go for Amnio?

One heartbroken Mami here just looking for someone to speak to :(

x

I was 1 in 90 DS. NIPT test came back in 3 days. Really fast. 1 in a million. Daughter was born last year. Sending love. It's really horrible. I had awful nausea and thyroid issues with that early part of pregnancy. This broke me.

My NT 1.5
Papp-a 0.21
Hcg 0.19

Risk was 1 in 28 for Edwards and Pataus.
Had the NIPT and all come back low risk. Hospital won't do invasive test due to risk of miscarriage. The risk is very small but they said no point taking any risk when they feel the NIPT sreening result is so highly accurate.
I understand the devastation. I cried so much I was all over the place. I can't say I feel 100% relieved but waiting on the anomaly scan to see how that goes and trying not to stress too much until then.

I had 1 in 30 chance of downs with baby no2 last year, nuchal scan was normal but blood test was 5 x higher than normal. Went straight for Amino so we could know for certain, everything was fine and he didn't have DS. He'll be 1 in a couple of weeks. I know it's a very worrying time, hoping the best for you OP x

I had 1:123 (will never forget that number) for DS. I remember my husband flipping through a book and telling me how he had to hit the correct page out of 123 pages to get a hit.

So we studied the scan pic. We had no knowledge, but we looked at the hands and found the nose bone. We didn't have an amnio because I was too scared, and I decided to trust my instinct that my baby was fine. I literally just prayed (not particularly religious). Baby was perfect.

I and others on this thread understand how terrifying this is and I wish you all the best. Fingers and toes crossed.

My son (now 8) was 1:20 for Downs and 1:8 for Edwards.
We were given the choice of an amnio or a private blood test , which we opted for. The blood test gave us reassurance and the scan looked fine.
I had scans every 2-3 weeks and each time it looked promising, and it was.
There was no absolute guarantee until he was born but it was 99% certain that he was OK by this point.
He is absolutely fine, and the odds are definitely in your favour too, so try not to worry.
One thing I did find was that the mental toll was quite intense even though I knew it was going to be OK, it took me a long time to accept it, and I kept thinking they were wrong and they had given me the wrong baby. But that was obviously PND.
Not wishing to frighten you, just to say watch out for not letting it overwhelm you if (when) get the all clear.

XXX

Hi OP, I had 1 in 14 chance of downs with my second child. I drove myself demented crying, note sleeping or eating, making myself sick with worry. Had the NIPT- horrible 10 days wait but everything was perfect. No Down’s syndrome. We declined the amnio as the NIPT is so accurate and didn’t want to risk miscarriage with the amnio.
after the fact I realised how unreliable the nhs tests are, if I’d known before I would have paid for the NIPT privately and not agreed to any nhs testing. Not worth the stress: currently pregnant with my third and we skipped the NHS testing and paid for the NIPT private. Try and focus on looking after yourself, have a look at the arc website they were recommended a lot of me, but the odds that baby are perfect are in your favour and so easier said than done but try to not carastrophise too much. Lots of distractions and self care until you get your results. Big hugs xx

Thank you all so much for leaving such wonderful messages and being hinest with many different experiences. Good and bad.

I am about to ring ARC now because I'm just not deaiing with this at all and hopefully they will just be someone I can talk to.

X

@LFS1991 will be thinking of you. Post here as often as you need.

Try to eat a little and sleep a little when and as you can. My dbro found that very hard when he went through this.

Thanks.
Tried ringing ARC but they are closed until the 3rd of Jan.
I'm finding it really hard to eat and sleep, the things you said.
Rang my antenatal clinic just to have someone to talk to, and they are lovely, but of course, nothing anyone says is going to help or change anything :(

I’m so sorry they are closed op. If it helps I wonder about trying to just block out any thinking as far as you can until you get the results. I know it’s really really hard. I had a different difficult experience in pg and found watching box sets back to back helped just a little.

Sometimes writing some things down can help. About amnio - my sil had an amnio in one of her pg. She didn’t mc and the hospital said the risk of amnio leading to mc is much lower now especially with a highly skilled practitioner. The risk they were quoted was 1 in 200. So if you decided you did want amnio that is now much safer than it used to be.

It's really hard to be positive when you are going through it. I burst out crying when they phoned to tell me we had the all clear. The odds are in your favour. Nothing is certain right now so it's not worth worrying until there is something to worry about. That's what got me through the long 3 weeks x

Good morning, sad to say I’m currently in a v similar situation and have to thank you for doing this post. It covers a lot of what has been going through my head.

A little on my background, 37, had an ovary removed a few years back. Finally conceived naturally in the summer to have a miscarriage at 5 weeks. Hit jackpot this autumn falling pregnant again. We had our scan on Wed, left feeling really positive. Told all was developing beautifully. All signs pointing to a healthy baby. Friday we are phoned being told we are high risk 1in150 of having issues and would we like to come in for a further test.

We jumped straight in the car and had bloods taken. I have ‘up to 10 days wait’ ringing through my mind. I’m like most people / not good with waiting! And naturally my mind is spiralling.

it’s a shock to the system when your flowing along with one mindset and suddenly to be knocked off course and really have to start considering options you never thought you’d have to face in reality.

I'm personally holding on to the wisdom of my partner who is no doctor but a MASSIVE number nerd. He’s been reading up on the mathematical formula used to decide who hits ‘high risk’ and who doesn’t. I’m not so hot with understanding his explanation but seems It could be that one factor hit the trigger for a warning, but with all the other factors being good or not too bad, could in reality be overall ok. I’m also taking some hope in the midwife explaining how on the whole this turns out to be ok.

My partner’s mindset is going with - the scan was v positive, odds are in our favour and whilst the concern is real, there is still hope.

I’m holding out hope for you and for us. Sending you lots of love in your hours of waiting. Xxx

I was going to say the same about amnio being very low risk indeed nowadays. With a very experienced practitioners it can be virtually zero.

@LFS1991 how did you get on, how are you doing ? I've been keeping my fingers crossed for you

@LFS1991 what was your outcome?