High risk of Downs (1 in 3) - please hold my hand

[ONCanMum]

First of all, let me say how glad I am to have found MN. I’ve been in a spiral for 24 hours and had trouble finding stories similar to mine. Note that I am in Canada, not the UK, but our prenatal screening systems are very similar.

Yesterday, I woke up to a normal NT scan report (2.4 mm, 70 mm CRL) and ended the day with a call from my midwife that my bloodwork shows 1 in 3 chance of Down’s. I am struggling to come to terms with those odds and am devastated.

My midwife got me a referral to a genetics counsellor and I assume the next step will be NIPT and/or amnio (I am almost at 14w).

I will be 36 at EDD. My numbers:
NT = 2.4 mm (1.81 MoM)*
Free beta-hcg = 61.43 (1.55 MoM)
PAPP-A = 1.47 (0.35 MoM)
PIGF = 12.9 (0.26 MoM)
MS-AFP = 21.42 (1.09 MoM)

* My NT is 2.4 mm and the MoM is 1.81. Does that mean the median value they used is 2.4/1.81 = 1.33 mm? That’s seems low given the CRL. I think it should be at least 1.5 mm or so???

I’ve been entering my numbers into every online calculator I can find and the risk is still high but usually around 1 in 20. I can’t figure out how they got 1 in 3! I have a call with the counselor next week and will definitely ask them.

It’s going to be a scary few weeks…

Oh OP, I'm sorry. My bloodwork was a mess too (though I'm not a medic so can't help with yours), and I was given 1/9 odds. After the NIPT it was discovered that DD doesn't have Downs, but I well remember the awfulness of the wait.

Thinking of you

@thecatwiththesilveryfur Thank you, I hope I can have a good outcome like you!

How old are you, and is there any history of Downs in the family? That can affect the results.

@TheInterceptor I will be 36 at the due date. No family history that I know of. The nasal bone was also seen during the NT scan but I don’t think that is factored in.

My lab must be using some other algorithm to get their numbers. I’ve been comparing my stats with others on the internet and my risk seems much higher for some reason.

I think age is relevant; my second pregnancy, when I was 35+, had a much higher risk than my second.

ARC are really helpful for talking through your options, if you want to do that.

@thecatwiththesilveryfur Oh yes, definitely my age. My base risk is 1 in 270. All my numbers are just a little bit off of the “normal”, except maybe the low PAPP-A so I didn’t expect such a high risk.

I’ve been struggling with this pregnancy in general, it took me a year to conceive and I’ve been sick with nausea almost the moment I tested positive! I’ve been starting to feel better now that I’m entering the second trimester but now have this to worry about. I just want to enjoy my pregnancy!

I don't remember all the measurements or whatever but my "risk" (hate that phrase) was 1 in 3 too and I went on to have the NIPT which confirmed that the baby did have Down's Syndrome. DD is now 7 and honestly she is the best thing since sliced bread! I too remember the feelings and fear of being at the stage you are now so just wanted to pop on to say that if your worst fears are confirmed there really is light at the end of the tunnel - whatever choice you make. Wishing you peace. Happy to chat.

Oh @ONCanMum , I feel you. For me, it was a pregnancy after quite a traumatic miscarriage, and this just felt like another blow on top of all that. I'm really hoping for good things for you, whatever they look like.

I had the same risk given to me last Tuesday, I'm 39 (nearly 40) had a NT of 2.5. PaPPa 0.44 and hCG 2.34 (both MoM)
My NIPT results came back late on Friday with the all clear. It was the worst week, reading everything everywhere, comparing scores, trying to rationalise that everything will be ok, thinking about all the what ifs.

I totally understand what you're going through.

Our screening nurse said that anything under 0.41 for PaPPA is considered low but that can be associated with lots of other things. They're looking for numbers close to 1 MoM for both and your risk grows as they move away but your hCG is much better than mine was.

She just put it down to one of those things (not sure that helped but I was very grateful it all came back low risk) I think as soon as you pass 35, your risk escalates with any small variance in your bloods.

With hindsight I would have gone straight to a NIPT test.

Take care, thinking if you.

@Jennih83 Thanks Jenni, I’m so happy your results came back clear! I agree as well, I should have opted in early for NIPT given my age.

Hey,
Sorry to hear your going through a crap time at the moment. Two weeks ago I was given a 1:2 chance of my baby having Down’s syndrome following a NT of 3.0MOM, 1.54MOM HCG and 1.09MOM Papp-a at 21 years old.

I was terrified and totally understand what you’re going through. It is such a scary time. I have had NIPT results back and are now saying I am low risk. It is such a relief to hear that despite it not being a diagnostic test. I would recommend having this done if this is still available to you as I got results back within a week and before my CVS was supposed to be (tomorrow) so it gave me peace of mind sooner than I thought.

please try to stay positive although it’s easier said than done, I’m here if you want to discuss anything. I have my fetal medicine appointment tomorrow but I’m not completely in the clear yet but I promise things get easier no matter the outcome x

@MummaDaisy That’s great news! I’m so happy and relieved for you!

I’ve been on a cycle of hope and despair. I have an appointment with a genetics counsellor on Tuesday and will be running to get my NIPT done as soon as they provide a requisition form.

I got 1:5 results for my DS1 gor down syndrome. But i dont do any other bloodtest because i was ready to love him no matter what. I learned and read how to take care downs baby and when he was born he isnt having down syndrome. So you never know..

I had very similar with DC3.
They actually asked me to attend an appointment to discuss termination options prior to results of the amnio.

Results were negative for serious abnormalities, so I was advised to expect a serious heart condition that may be incompatible with life. Went to Oxford for heart scan.

Heart scan was fine.
Everything was fine.

@Abcdefgh1234 I can’t imagine waiting until
birth to find out! That’s amazing that you were able to!

@Nextlevelnonsense Wow, I’m so sorry that happened at the appointment… how inconsiderate! I’m happy your results ended up being clear though!

I’ll be taking my virtual call with the genetics counsellor between work calls (luckily working from home) and I hope I’ll be able to hold it together.

So sorry, I understand the utter despair and spiralling. I came back with 1 in 8 odds and spent the next 2 weeks glued to Google researching anything I could think of. I am also not in the UK and spend ages on the online calculators, all of which came back as 1 in 2, which made my heart sink further. Your hcg is much lower than mine so I am suprised your odds are so high, I am also almost 40 so I expected them to be higher.
Best of luck with the wait, we based our decision from the NIPT test as I was happy with 99% accuracy and didn't want the further wait for the amnio. I live rural and things move very slow over here!
Wishing you all the luck and strength getting through the waiting period. If you need any support later from someone who had to make a decision, I am here. I am only 3 weeks into my own journey so everything is pretty fresh ❤️

@onelostsoulswimminginafishbowl I happy to hear your NIPT results came back clear! Every false positive I hear about adds a little bit of hope.

Based on my reported NT, blood work, and age most online calculators put me closer to 1:20 not 1:3 but either way, it’s a higher risk than I would like.

Things definitely run a bit slower in Canada. I was hoping I could get my blood in for NIPT the day after my midwife called but the genetics counsellor is now handling my case so I have to wait two more days. Seems silly as I’m fairly sure that’s the next step!

Oh sorry OP, my message wasn't very clear there. I was unfortunately the 1 in 8 in my case and made the decision to terminate 3 weeks ago. Your bloods and age are better than mine which is why I am surprised your odds are lower. I was coming back as 1 in 2 however on the online calculator.
Wishing you all the luck, and remember that most women are on the other end of the odds from me! ❤️

@onelostsoulswimminginafishbowl Oh, I am so so sorry. How are you doing? Hoping you got and are getting the support you need. ❤️

I was in that same boat just two weeks ago. It’s feels like a nightmare. I’m hoping and praying everything is ok for you.

try to remain hopeful because there are so many stories of false positives and I personally think these types of testing are very inaccurate!

the last thing I expected was 1:2 odds at my age but dr said mainly NT thickness threw off my result so chances are one particular thing has given you that result.

they also fail to tell us that the MOM values are just averages. Every woman and every pregnancy is different meaning our hormone levels can be completely different. I’ve seen ‘worse’ bloods than your figures and things turn out completely fine.

but I remember the minutes of hope and then the minutes of dread so all I can do is just provide you with some positivity to try to make your moments of hope last a little longer ❤️

im hoping everything will go well for you on Tuesday and you’ll get some answers soon x

Hi everyone, just wanted to update that my NIPT came back as low risk! I am relieved but I am still planning on doing amnio next week. The GC said that I can consider my risk to be 1:270 (back to my base risk by age) which is still above the 1:350 cutoff.

Enjoying this positive news and mentally preparing for amnio.

I’m glad the NPT came back better

Good news that the NIPT came back as low risk. How did the amnio go?

That's great. Can I ask why you are doing an amino?

NIPT isn't a diagnosis tool