1:2 downs risk post 12 week combined test

[Trying2stayhopefull]

Hi all

Looking for some hope during a bleak time.

13 weeks pregnant tmrw and booked in for CVS.

Last thurs our 12 week combined test at kings came back with some scary results.

2.8 NT
0.89 PAPP-A
3.27 hCG

I’m 36.

We were given 1:2 result for downs and warned about potential heart issues.

I feel completely heartbroken.

I have had the harmony test 17 March but it came back inconclusive. FMC re-run this on Wednesday last week. Am I right in thinking the results won’t be much different to the combined 12 week test at Kings?

Any advice welcome!

Thank you

[Cinderellashoes]

I think the Harmony test will give you a definite answer won’t it? Or at least, a 90% something answer? Sorry you’re going through this. Did they do any soft marker checks when you had the harmony test done, such as a scan looking for nasal bones etc? When will your cvs be, and do you think the outcome of this test would change what you did (or didn’t) do about the pregnancy? Sending love

[Trying2stayhopefull]

I’m not sure if the testing process is the same for the blood work at the 12 week scan and the harmony?

CVS is tmrw.

Sorry I don’t till understand your question about changing during my pregnancy? Do you mean so far?

[Trying2stayhopefull]

Soft markers weren’t mentioned actually.

[Cinderellashoes]

Good luck for tomorrow I meant would you want to continue with the pregnancy do you think? I went through similar and I was very lucky all turned out ok for me❤️

[Trying2stayhopefull]

Sorry I see.

Did you? What were your results? Risk? If you don’t mind me asking.

So glad it turned out well for you.

In all honestly totally undecided and would need to decide post results.

[Cinderellashoes]

I can’t remember the exact risk, I think it was more to Do with my bloods though than the NT. I had the Harmony test and it came back fine. They did a scan too which was reassuring (paid private, about £450 I think?) I too was undecided. It’s hard when you don’t know what to expect isn’t it?

[Trying2stayhopefull]

Oh interesting. So you have a high risk via NHS then did the harmony?

[zombielady]

Hi, sorry you're going through this. I was also 36 and given odds of 1:2 nt was 3.6. I definitely prepared for the worst but everything was fine! CVS was clear and heart scan at 20 weeks also clear. It's terrifying being given those odds, bit remember it's not a certainty.

[Trying2stayhopefull]

So encouraging to hear @zombielady thanks for taking the time to share with me. So glad it worked out well for you x

[Cinderellashoes]

Yes as I was in a real state tbh and the harmony we got booked in for the same day and got the results back really quickly too. It was awful though and I totally sympathise.

[Trying2stayhopefull]

I might call the FMC tmrw before my CVS to see if results are in. It would be nice to hear.

First time I haven’t loved having a bank hols!

[jmm499]

@Trying2stayhopefull so sorry you’re having such a worrying time :(

We went through very similar over Christmas 2019 - I can relate to not loving the bank holiday! Ours is also a positive story though ❤️ We had an NT measurement of 4.7mm, papp-a of 0.38 and HCG of 1.97. My combined chance was a ‘greater than 1 in 4’ of DS. We subsequently got a negative harmony and also had an amnio because of the high NT - all clear and the cardiac scan was too. We now have a happy and healthy 9 month old. I am keeping everything crossed you also have a positive outcome 😘 The CVS results should come back quickly - how did it go today? Xx

[Trying2stayhopefull]

@jmm499 thanks so much for sharing your story. I’m so glad it worked out for you.

The CVS wasn’t too painful. The team at Kings were simply incredible.
The procedure was overseen by Prof.
Kypros Nicolaides. We went in with terrible odds and came out even worse.

Sadly our little one has a hole in his/her heart alongside other issues.

We should know more in the next few days but it doesn’t look very good.

[jmm499]

@Trying2stayhopefull sending you a huge hug. I’m so sorry today brought difficult news :( I am hoping and praying for you and your little one - the wait is unbearable but you will find the strength to get through it. Thinking of you and holding you in my heart xxx

[jmm499]

p.s we paid to have our amnio at the fetal medicine centre because of Prof Nicolaides, he was incredible - you couldn’t be in better hands although I know you’ll wish you weren’t here at all. I hope you manage to rest a bit tonight Xx

[Trying2stayhopefull]

@jmm499 yes he is brilliant. Thanks again xx

[Trying2stayhopefull]

@jmm499 update

It gets stranger each day.
We saw the cardiologist today and it has been confirmed to us there is no hole in the heart. Great news.

Later in the day we received our CVS results. The placenta is showing 60% mosaic downs.

We need to wait 3 weeks for an animo.

It’s torture. Has anyone come across
Confined placental mosaicism ?

[SarahD19]

@Trying2stayhopefull really sorry you’re going through this. I experienced placental mosaicism in respect to Edwards Syndrome. For a very long time we were in limbo not knowing if baby is impacted. It is believed baby is low level mosaic. The good news is she has been perfectly healthy since birth.

I remember it being such a rollercoaster and it went on for months. We also faced suspected heart defect and referral to Fetal Cardiology. I am thinking of you. If it helps to PM, happy to talk x

[jmm499]

@Trying2stayhopefull I’m so sorry you’ve got more uncertainty and another wait :( They couldn’t do a CVS for us because of the location of my placenta so I had to wait for an amnio too - I can relate to how difficult that wait is. I’m afraid I can’t help with the placental mosaicism though 😔 I’m thinking of you 😘 Great news that your baby doesn’t have a hole in the heart 🙏🏻 Sending you strength for these weeks ahead xxx

[Trying2stayhopefull]

@jmm499 thank you I’ll take a look xx

[JaiPow]

@Trying2stayhopefull

I’m 34 with 1:4 chance of t21,t18,t13.
PAPP-A .24
BHCG 6.84
NT normal

Amnio and NIPT came back yesterday, negative for all 3 trisomy.

Hoping the same for you. 💕

[Trying2stayhopefull]

@JaiPow

Oh that’s soo wonderful for you!! All the best for the rest of your pregnancy.

My amino is a week Monday. I am slowly learning about how life of a mum with with DS or MS baby might be like and we are taking the time to think and learn.

I am being realistic given our CVS results but also holding on to some hope!

Thanks for getting in touch xx

[Retrievemysanity]

@Trying2stayhopefull good luck for your amnio My DD has Downs (she’s 13 now) and I know a few kids with mosaic downs. If the results aren’t what you hoped for and you’d like any info/to chat feel free to pm me.

[DeloriousDelilah]

@trying2stayhopefull welcome to club 21! My DS has Down Syndrome and is 17 months old - he's a cheeky little chap with a massive personality and the biggest ever grins. We also had a 1:2 when we had the tests.
Highly recommend following Positive About Down Syndrome on Facebook if you haven't already: there's also a group for expecting mums.
I know it's a scary time, but trust me, you'll be fine x

[Ds213]

Agree with getting in touch with Positive About Down syndrome and joining their Great Expectations group on Facebook. I also have a baby with Down syndrome but found out antenatally. PADS have been an absolute life line. Every child with DS is different, but my daughter so far has hit all of her milestones and has no health concerns. She’s still very young though. Happy to talk if helpful.

Whatever the tests show and whatever you decide there’s people out there who can hold your hand through it. If you’re anything like me you’ll be feeling all the emotions right now - and that’s ok x