Screening high risk

[Mum2boys12]

Hi

I am 12 weeks 4 days pregnant.
I had the usual scan at 12 weeks and opted for the screening.
My results came back high and i am so so worried/anxious.
So they have gave the baby a 1.1 chance of having down syndrome.
I didnt ask on the phone what had had this result as i checked babys NT and it was 2.8 as far as im aware this is normal?
Can only think its something in my bloods?

We are having a harmony test tuesday so we can be prepared. Has anyome had a high risk result and a low risk resukt through the harmony test?

Im so anxious i feel so ill.
Im 33 and have two healthy children.

Thank you.

Hi @Mum2boys12
I just went through this too. I’m 34 and had a 1:4 chance, so very high. The waiting is so hard and a mental battle, I’m feeling for you.

My NT was normal, and I believe your number is normal as well.

What you want to discover in your blood work is you beta HCG and your PAPP A.

HCG: 6.87
PAPP A - 0.24

Both numbers should be between 1-2. High HCG and low PAPP A are indicators for DS. This blood work (where you got 1:1) and the harmony blood work are both just screens and not definitive. I did the amniocentesis as well as the additional blood work.

My results have come back negative for any chromosome abnormalities. Still working through why my blood work was so off with the doctors.

There are some great posts in these threads with other women with similar stories which I found comforting. Other women as well who gladly have children with DS. I’ve heard positive about Down syndrome is a great resource.

Thinking of you 💕

I can’t remember the details/numbers but I did get high likelihood of downs in the harmony test and went on to get a similar result with the NHS screening later on too. It was also a third child for us. As the pp has said, the harmony is only a screening test that gives you percentage likelihoods, rather than a definitive result for you as an individual. I found that hard to understand initially. But to get a definitive result I had an amniocentesis test and was given a clear result. I had that done privately on the back of the harmony test result and it was all quite early on, before my first NHS scan. I think they said I would also have been offered it on the NHS due to the results of my bloods. But we had wanted to find any risks out earlier third time round. I hadn’t done the harmony test with my other two. Good luck with it all.

Hi OP
I'm so sorry you're going through this. I've just recently been there myself and know it is absolute mental torture so hope you have some sort of support network around you and some one to talk to.
My story is very similar to your so hope it helps you, I know I googled so much to find stories like mine. My NT at scan was 3mm and I was told everything was normal. Following my blood test I was told I had a high risk chance of baby having downs syndrome. My blood results were PappA- 0.67
HCG- 1.23
I'm also 33. So nothing hugely worrying but all together a high risk outcome in whatever calculation they do. I went and had the NIPT blood test (hospital completely messed it up and delayed results by 2 weeks) eventually got results and test had not worked. I was booked very quickly into St georges fetal medicine for a scan and amniocentesis as by this time I was 16 weeks pregnant. We had decided to terminate if it was a positive result (sorry if that's upsetting for anyone) so it was such a distressing time. Amnio on Friday and results back Wednesday morning. 🙌 Good news and clear of all three trisomy.
I cannot recommend the large hospitals enough if you struggle with you local place.
I'm not sure how I feel about the screening now as I felt we were completely left alone with this awful information and wait with no guidance or even contact. So I really feel for you, I wouldn't wish it one anyone.
I'm due my 20 week scan the week after next so just keeping everything crossed for that.
All the very best of luck OP. Hope you're results come back ASAP

Hi guys thanks for your replies.

Im hanging on to the hope that there is still 98.1% chance that baby will be okay.
Its so stressful as you have said i feel so alone. Its almost like they have dropped a bomb on my life and left me to deal with it.

Im hoping the harmony test give us a more accurate result.
1.1 % of having downs syndrome is still a chance and we need to mentally prepare ourselfs for this outcome.
I was trying to steer away from the amnio if poss as everything sounds so scarey.
We are going private for thr nipt test.

Thank you ladies and im so glad u all got through this

X

I won't lie, the amnio was horrible. I read how much it didn't hurt and so on, and it didn't hurt necessarily but I found it so awful. Invasive is the right word for it for sure. It did give the result 100%accuracy and v quick though. All the best of luck for NIPT, if it's private hopefully the wait won't be too long x

Hi
Yes its private, they have told me 5 working days for the results.

I just don't quite understand the difference in odds. I get that with the NIPT test they look at the babys Dna but ive read a low reading is something like 1 in 1000.
Im praying that luck is on our side. The waiting and wondering is a killer in itself.
Thank you for the reply x

@Mum2boys12 NIPT does not look at baby’s DNA at all. It examines Cell Free DNA in maternal blood - some of which they hope may come from the placenta, but not always. Even the placenta is not necessarily reflective of baby’s chromosomes should NIPT adequately acquire CF DNA from the placenta.

Hi, I got a 1:51 chance of downs after the blood tests, with my age alone I would be at 1:70 (I am 41) so automatically high risk based on the way they do the calculations. It equals a 2% chance of baby having Down's syndrome.

I had the NIPT test (harmony another name for it) it takes fetal dna so tests for the extra chromosome. I had this done about 4 weeks ago and the test came back with "very low risk" and I also found out the gender.

The midwife at the hospital said there are a lot of factors in their blood test and it is all put in to a formula and gives the risk, whereas the nipt test is based on the fetal DNA, she said the hospital cast the net wide to catch the few rather than small and miss some.

Hope that's gives you some reassurance the odds are very much on your side but I know from experience it doesn't help with the worry of waiting for the results x

Hi missregina

Thank you for your msg it was somewhat comforting.
Im praying luck is on our side.

This is all new grounds for me and so bewildering. Its comforting hearing other peoples stories.

Thank you so much.

@Mum2boys12
Not sure if you’ve have your amnio yet. My experience was good with the amnio. It was rather painless which was surprising but oddly uncomfortable. Only lasted a minute.

Thinking of you

Hi @JaiPow

I havent opted for the amnio, i have however had a NIPT test done today privately and should have the results within a week. 🙏

@mum2boys12 how are you feeling? How old are your other children? Hope you're getting some rest and time to relax

Hi @mamamalt

I have 2x boys 9 and almost 7.
I am feeling anxious but a little more positive. I have really positive moments and then really dark ones. Awful situation for anyone.
Can i ask, i was reading your post over. You said you had a clear amnio but still waiting on your 20 week scan.... What are you anxious about? Your results are great ❤️ i heard and amnio is practically 100%.

Do you no what sex your little one is.
X

@Mum2boys12

I know this last question wasn’t directed at me.

My amnio was clear, but there’s a reason why my hormones were off. They’ve suggested the placenta could have an issue then causing issues with the baby. There could also be an issue with my ovaries, liver and kidney.

I too am waiting to see if everything looks clear with baby and myself.

@JaiPow

Fetal medicine called me again today. I asked them fot more info as to why i an in thr higher risk category and all she told me was.... We put quite abit of info into a system and it give us a percentage. Sk age weight.. If your diabetic or not ext. Reallt didnt help me tho.

Not much support out there at all.

Bloody phone sorry.

I hope everything goes well for you @jaipow i will be thinking positively for you

Ah they are at school then so hopefully you are keeping your mind busy! Mine are younger and I found keeping my patience and doing all the baby stuff really tough.
I did get a good result but my hospital have been rubbish and called me straight after the hospital in London did and made me worry again! Consultant in London was really.positive and was confused as to why I had been there in the first place then a local midwife rung and said 'great news, let's see how the 20 week scan goes and go from there' so now I'm anxious! 😑
I didn't mean to worry you though, we did have a really in depth scan at the amnio appointment so putting my trust there instead of rubbish midwife!

Hi @mamamalt

Yes they are in school but it doesnt help. My minds over active. Fetal medicine called me yesterday too. I explained we paid for the NIPT and she also mentioned the 20 week scan which made me think again well why if the NIPT comes back with all being well. I feel your pain. My anxiety is through the roof. I guess they have to cover there arses though. I hope your feeling well x

Its all sounding very positive for you.

As far as im aware u cant really best a amnio test. Its apparently the best so i would go with that ❤️❤️ fantastic news. Try and enjoy your pregnancy now. How far gone are you?

I'm sorry you're feeling that way. It is the hardest time I think of my whole life! And the professionals don't help! You would think they would be better at their wording when they know how people are feeling.
I'm 19 weeks today so just hoping for the scan which is a week on Monday so hopefully I feel a bit more positive after that as long as all is well. It doesn't even feel real at the moment.

Hi ladies. I appreciate you’re both anxious and sending you positive thoughts. However I also know that when we’re facing tough times, there is a tendency to hear things negatively and take things personally.

The fact is that for ANY pregnancy, the 20 week scan is timed as such as this is when a full anomaly scan can occur. Ultimately the 20 week ultrasound is a health check. That is due to gestational timing/development. It is when health of baby can be assessed - problems can be detected in the majority of pregnancies (obviously not in every case). And not all problems are linked to known trisomy or conditions checked in screening - in fact the majority are not.

With all my pregnancies, midwives have referred to the importance of attending an anomaly scan - irrespective of earlier issues. I honestly wouldn’t take those comments to heart. Although I appreciate it is hard not too.

*to not too

Hi @SarahD19

Thank you for that. It makes sense, i suppose its just our anxiety and things are a little heightened than normal. Its the uknown and waiting that does it.

Thank you

@Mum2boys12
Hi - everything has come back good after the ultrasound. yay! Breathing a little easier after 1:4 ratio and lots of scary information.

Yes - the information how they receive the ratios I found to be poorly shared and also hard to find via google. Essentially its all statistical data, with things like high HCG, low PAPP A, age, smoker, weight, high NT all contributing to a higher result. The goal primarily is to find potential parents on T21, T18 and T13 to TFMR or prepare them for having a child with disabilities. They do find about 85%, but in the process, scare the crap out of many many parents who end up having chromosomally normal children.

I have been thinking of you and if you've gotten your NIPT results back.

Hi @JaiPow

No news yet. They said 5 working days. Today is day 5. Hate this waiting.

Im so happy for you 💐 do you think you can relax now?

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