12 Week Screening - High Risk Down Syndrome

[theivfnewgirl]

Hello

I am 14 weeks pregnant after my third round of IVF, and my 13 week scan showed a 1 in 25 chance that the baby has Down syndrome. I had a NIPT blood test last week and am waiting for the results - absolute torture waiting for the call!

I was wondering if anyone had any positive outcomes after high risk screening? I have tried to find more information on inaccurate results after IVF treatment but nothing is clear and I am more confused. I feel like I’ve totally disengaged myself from this pregnancy until I get the results as I’m terrified it won’t continue.

Any advice/words of wisdom appreciated 🙂

I’m sorry you’re going through this.
The combined test will detect around 75-90% of babies with DS, however in the process it will give a high risk result to a great many more that are not affected.
I read that, on one study of 15,000 pregnancies, it found over 850 high risk results when there were just 38 affected babies - giving false positives to over 5% of all the pregnancies in the group (and it also missed 8 cases). Meanwhile the NIPT test gave less than 10 false positives and caught 100% of cases.
Anyway, of course there is a chance the baby could have DS, but the odds are overwhelmingly in your favour of the NIPT test giving a more reassuring result.
Hope that helps - good luck and let us know how you get on.

Hi, firstly congratulations on your pregnancy!
I’m sorry you’re going through this worrying time.

I was given a 1/26 chance after my 12 week scan and I had the NIPT so I know how long the wait feels.
my results all came back low risk and I’m now 27 weeks and everything has been fine since, so there can definitely be positive outcomes. 💖

Hi all!

I am going through the same thing. I actually got those exact results - 1 in 25! I've had the NIPT done last week so should hopefully get the results between tomorrow and Thurs. It's honestly been the worst week of my life. Do you mind if I ask what caused everyone's high results? (if known)

Mine was my blood test. Results below:

Age: 26
Nuchal Fold: 1.5mm
HCG - 4.9!!!!!
Papp-a: 0.35

I'm no expert but believe my sky high HCG caused such a high result, as well as my Papp-a being low. I just want this wait to be over :(

Wow thank you everyone. It’s been the longest week of my life and I’m sure I won’t even get the results tomorrow as expected due to the UK bank holiday. I didn’t even take it in when she was talking to me so I can’t remember the numbers but I know the hcg number was high, I was hoping this is something to do with the IVF medication but not sure if that’s wishful thinking?
I am 36 but my embryo was frozen was I was 35, nuchal fold in scan was 2.2 when I was 13 weeks pregnant. I am trying to prepare for the worst but hope for the best…. Standard IVF attitude!
Thanks again everyone, fingers crossed for next week

May I ask when and based on what they calculate the 1 out of 25 and 1 out of 26 chances of having a DS baby, even prior having the test?

And have all tests being carried out via NHS or privately?

My stat was 1/9, due I think to low papp-a and high HCG. NIPT came back low risk, and my baby doesn't have Downs.

Wishing you good luck - I know how worrying and distressing it is.

The first test I had was the NHS standard 12 week scan blood test and calculation based on age, weight & ethnicity - this came back high risk based on the calculation combined with my hcg levels.
Then I had a NIPT blood test which I’ve heard is 99% accurate, I’m hoping for the results of this in the next day or two. This was also NHS but from what I gather this is a relatively new service they offer and some hospitals don’t provide this so people have to go private for a harmony test.
This is all completely new to me, and I’m just hoping the NIPT comes back low risk. If it does come back high the next step would be a needle (Amniocentesis?) to give a definitive answer.
I hope this makes sense!

Yes, we were high risk for DS after IVF, but the baby did not have any chromosomal problems. I think ivf can skew the blood test results. It's so worrying though, I know. Keeping my fingers crossed for you.

Just had my results and all fine, low risk across the board. What a torturous week! Thanks again everyone x

What a relief. Great to see a positive outcome. As if IVF isn’t hard enough.

Very, very happy to hear this! I found it a bit difficult to relax into the pregnancy for a while after because of the worry from waiting, but give yourself time, look at the NIPT as many times as you want and feel reassured by the low risk results xx🌸

Great news x

@theivfnewgirl congrats, very happy for you. I received the same outcome today and I’m over the moon! It’s been the worst week of my life! Also found out I’m having a girl so super happy 💖 hope your pregnancy goes well

Hello,

I’m just looking for some advice / outcome results. I am 24 years old, previously had a healthy baby boy no issues pregnancy or birth. I’m currently 14 weeks pregnant and my 12 week combined test has came back high risk 1:90 for Down syndrome. I had the NIPT test done yesterday and won’t have the results back until next week. I am worried sick. Any advice or similar situations would be great to hear please thank you

@BabyMum13 aww bless u hun. Yes I’m pregnant with my first at 26 years old. My risk came back 1 in 25. It was due to my hormone levels. Do you know what triggered your high risk?

anyway, I had the NIPT done and the baby came back fine. I was going out of my mind, reading about every forum there was on this and 90% of the time, these high risk results are false from what I read. And I read A LOTTT! I know 1 in 90 seems high but it’s just over a 1% chance still. Your odds seem really good

Hey! Thank you so much for the reply! Sorry you went through it also! & congratulations on the baba! Yeah she said it was due to my hormones too? not sure what that means tho.
Just a total shock to the system when it’s not something you even concern happening to you. I’ve been the same reading up everything and anything!

@BabyMum13 oh god yeah it was horrible. I know all too well that awful wait! But honestly I’d say your chances are more than fine! I won’t even say don’t worry because I know it’s easier said than done but it sounds like it’s just the way your hormones are for this pregnancy, likely completely normal for you. Let me know how you get on 🙌🏾 & thank you, congrats to you too! 🤍

Hey hun, Oh god the wait is awful, nothing compares I was going stir crazy! But results from NIPT came back normal thank the lord! Hope all goes well for you the rest of pregnancy and delivery! X x x

@BabyMum13 yayyy knew they would!! Congrats my love and same to you! 🤍🤍🤍

Hi I had my results back yesterday from my blood test that I had at my 12 week scan, they came back high risk for downs 1:98
or 1.1% chance. I don't know all terminology but the midwife said the measurement from back of neck was fine my hormones in blood were fine and there was no detection of downs in my blood the only thing that she thinks made this result is my age (I'm 42) I had bloods done yes5for NIPT test so now it's the 10 day wait, im 1 day in and I feel l8ke I'm going crazy, I can't think about anything else, I feel so sad, my husband is trying to help me be positive but I'm finding it hard especially with having had 2 miscarriages in the past year. Has anyone got any advice or similar stories to share
Thanks x

Hi Alisid. I feel your pain, the wait for the NIPT test results is awful and you can’t help but fear the worst. My results came back quicker than the 10 days and said low risk of Down’s syndrome but I still feel as though I was robbed of a week+ of my pregnancy not knowing if it would continue. Especially it taking over 6 years to get to that point.
The 12 week screening results are calculated based on age, height, weight and ethnicity as well as bloods and nuchal fold so I don’t feel like they are accurate anyway for people over 35!
Massive fingers crossed the NIPT shows good news for you x

My results came back today low risk , im so happy !! Only took 5 days xx

i know this is an old post but I am in this situation. My screening came back 1 in 13 chance and I am freaking out. I had my NIPT done 4 days ago. I am just wondering how long everyone waited for their results. I know it can take up to 10 days but I don’t know if I can take 6 more working days of this!

Mine came back in exactly 5 days and they told me upto 10 so fingers crossed its sooner, I hope everything comes back okay for you xx

Thank you. I had mine on Tuesday and it’s Monday as I type so hopefully not much longer. This wait is killing me.