High risk Down syndrome on combination test.

[Nazkim]

Hi i had my combination nest results yesterday and I got a phonecall where the midwife told me I was high risk for Down Syndrome. This is our first child and I have already had a miscarriage before. I was 13+2 when they did the tests and apparently my characteristics (age 36), NT 3.2 and bloods hCG 1.9 gave me a risk of 1/27.

I was quite devastated and me and my partner have decided to be seen in fetal medicine clinic to discuss further options. Has anyone had similar results and what were the next steps you took. We are thinking to go straight for diagnostic testing to be 100% sure of any abnormalities so we can make the right decision.

Please share ur experiences with me. I an super scared and extremely upset.

ARC is an extremely useful website for explaining this.ARC

The likelihood is that this pregnancy is not affected with trisomy…expressing the same numbers differently that is is a 97% chance. There are a few things that are normal (slightly older, upper half normal range NT) but will be pushing up your probability.

They will discuss this at the fetal medicine clinic, take a closer look with another scan (with a doctor, not a sonographer) and probably offer you a blood test for NIPT. This is not a diagnostic test (that would be CVS or amnio, birth of which have a small miscarriage risk) but is more accurate than the screening you have already had.

You will inevitably be thinking about the what ifs but just take one step at a time because the likelihood (not certainty) is that this will be fine.

I understand exactly how you are feeling. Can’t remember the figures but I know I was given a 1/27 risk of Down’s Syndrome too. Age 37 at the time. Remember bursting into tears when I told my husband, especially as it was a surprise - but very wanted - pregnancy. Just a shock to get a call out of the blue.

We had to go and see a counsellor (genetic one maybe?) before making a decision about what tests we might want. Lovely woman who explained everything and talked us through possible outcomes, options and emotions that go with those.

Opted for the CVS test and had it done within a day or so if I recall correctly. Fairly painless, just a bit of pushing when they put the needle in and take the sample. Rested at home and just had a couple of minor cramps.

Got the results within a few days, rather than the 1-2 weeks they said it could be. All negative and he’s now a healthy 2 year old.

Throughout the whole waiting time I just tried to focus on the fact it was a 26/27 chance of a healthy baby. Really tough and scary. Try to take it one step at a time and not get ahead of yourself. Easier said than done, I know xxx

Hey hun. Im currently going through this. So my combined screening from my bloods come back as 1 in 137 chance of having a baby with Down syndrome. 1 in 133 of that is due to my age. My HCG was same as yours. Im 17+3 and I’ve had a NIPT test this week which you’ll be offered. They separate the chromosomes out within your blood to give you a more accurate result however it’ll only be 98-98% sure. So you’ll either get a call with low or high risk. If low risk, now further action will be taken, if high risk then you’ll be offered the amnio test which is 100%.
I had the NIPT Tuesday and still waiting for my results. To say I’m a mess at the moment is an understatement. I know exactly how you’re feeling and I’m praying for the best outcome for you x

I had a 1:25 risk, when ds was on the way. I opted for an amnio -which didn't hurt at all - and he was fine.

Stay calm op, and listen to the doctors. They will know what to suggest for the best. Good luck.

Do you mind if I ask how old you were please? And congratulations X

I was 44 at the time. Ds was a surprise first baby, born when I was 45. He's a healthy, ever hungry 15 now. 🙂

Awww lovely. I love hearing stories like this thank you x

Thanks so much for your replies. I have no clue what is gonna happen and we are taking each step at a time.
I am worried cos all my 3 marrkers are not normal. If the NT was fine and only bloods maybe i would be less worried but it seems like all my markers are abnormal, oldet age, raizef hcg and raised NT.

AimeeLou: i wish you all the best aswell, hopefully all will be well. Just wondering if your NIPT came low risk, would u still consider a diagnostic test or no?

Khaa: thanks for the ARC website, my midwife sent me that aswell

Hey hun. No I wouldn’t. If it comes back low I’ll leave it at that. They don’t offer amniocentesis if NIPT come back low risk so I’d have to do private if I wanted it anyway x

Hi
Im 27, only had an NT of 3.5 and came back ‘greater than one in two chance of downs’ so I understand your situation.
i don’t know my CVS results yet, but fingers crossed for us all. The waiting is the worst.

Hey,
Can I ask how this played out? I’m in the same boat with 1:2 and have been broken all week. I’m awaiting NIPT results but the waiting is killing me

Hoping for the best for all our babes

Hey,
Can I ask if you have an update? I’m in the same boat with 1:2 and absolutely broken 😔

How did you all get on mummas? Good news I hope!

Heyy my tests came back all clear. The little boy is healthy. I an so relieved and now excited to meet him. Thank you all for the support and reassurance here on mumsnet.

We are in the middle of testing. Had a CVS yesterday, we were initially told 1:2 for Downs and 1:15 for Edwards/Patau.
The Fetal med consultant in Birmingham yesterday gave us a bit more hope and reassurance so feeling a lot better today.
We have a few more weeks of testing to get the all clear but feeling hopeful after 9 days of devastation.

Brilliant news! Try to enjoy the rest of this pregnancy now x

Sounds more positive now. I’ve had so many scares during this pregnancy I am genuinely exhausted. Glad everything sounds more positive and you can hopefully enjoy once results come back x

Hello, may I ask what the consultant said for some reassurances? I have been given a 1/2 chance of Down’s syndrome, 1/9 chance of Edwards syndrome. I’m 34, NT 3mm, hCG 1.08 but a papp-a level of 0.09.
I had my bloods taken for NIPT test on Tuesday, my health board only runs the bloods on a Monday so I’m hoping to get the result next week. It’s been a very anxious and stressful time.
pleased to read that yours was a low chance x

Hello,
So sorry to hear, I know just how awful this time is for you.
Im not sure how helpful this is for you as it was a very unfortunate play of events for us.
We ended up having full genetic screening off the back of our cvs because it didn’t show anything. Unfortunately then they found the issue with a single gene and the cause of the issue along with concerns from our 20 week scan.
Our little boy was born sleeping at 23 weeks.
I hope I am the one in however many people and you get the better outcome.
Sending all of my love and hope to you

@MammyAsh so very sorry to read that 🌻

I am so sorry, very brave of you for sharing.
sending you love and strength x