# High risk for Down's syndromr



## Ljd401

We found out on Thursday that our baby has a high risk for Down's syndrome. The risk is 1:23. I am 31 & this is my first pregnancy. Our Papp-a was 0.36 and HCG was 2.6. The Nuchal fold is 2.4mm. A nasal bone has been seen. We have opted for the Panorama Testing and had this done Friday so we should have the results in ten days. We are extremely anxious and upset. Could low Papp-a be caused by anything else? Also I've been very sick throughout the pregnancy so am wondering if that is why my HcG level is high. Any advice would be greatly appreciated. Thank you xx


----------



## AnnieMac2

I can tell you that my best friend was told in both of her first two pregnancies that, based on soft markers, each of her boys would almost certainly have DS. The doctor was so confident that he asked them if they wanted to abort (!). She went on to have two perfectly healthy children. I wish you all the best!


----------



## Marie000

I think hormone levels can be caused by a lot of things. In some cases, some hormones are more or less present with a baby with Down's Syndrome, but it can also be caused by normal variation. 

Try not to worry too much. You still have 22:23 chances of a healthy baby. The presence of a nasal bone is a good sign too. 

I was given 1:10 chances of my baby having Down's Syndrome, and she did not have it.


----------



## Ljd401

Thank you so much for your replies girls. Hearing positive stories really does help me stay calm x x


----------



## sammie13s

Hope you get the results you want xxx


----------



## steph.

I had similar results when pregnant with dd2. At 27 my risk was 1:20. Papp-a was 0.5 and hcg was 5.12 (!!!). Nt was 2.6mm. We had the amnio which gave us the all clear and she was born without any genetic abnormalities and is a very healthy toddler now. On a side note she was born with a lymphatic malformation (cystic hygroma) on her shoulder which wasn't picked up on ultrasounds, she had it injected as a baby and now it's completely gone. I don't think that had anything to do with my crazy blood work though. I remember how terrifying those weeks of not knowing were, and will keep you and baby in my thoughts. If you have any questions feel free to ask.


----------



## Ljd401

Thank you so much for taking the time to reply to me. Did they give you a reason why your bloods could be so out?xx

We are off to see Professor Nicolaides today who is an expert in Fetal health so I will let you know what he says xx


----------



## xprincessx

Honestly I would try not to worry hun. I know it's easier said than done but like a PP said you still have 22:23 chance of baby not having downs syndrome

I full on refuse to have the NT test for this very reason, I know I would panic and freak out and it would cause me unnecessary stress and even with all that there is no certainty until baby is born and I, personally, would never act on NT results so I'd rather not be given a statistic IYKWIM. But I understand everybody is different and alot of people would prefer to know beforehand. 

I wish you all the best and hope you get good news x


----------



## Ljd401

Thank you for your support  x


----------



## lizlemon

Hello, I'm following as I am in the exact same boat as you. Had my harmony test carried out yesterday at fmc as I had very similar results to you at kings on Monday. Such a crappy thing as the wait is killing, I'm holding on to the fact that 94% won't have an issue. X


----------



## steph.

Ljd, no they never gave me a reason. I think they said it could indicate placental issues so I was offered an extra scan at 32w to monitor growth, but she was born a healthy weight 2.7kg at 36w. I did have high hcg with my first too, cant remember exactly but it was somewhere between 2 and 3. Papp-a with her was 0.9 though so she was low risk of ds. Maybe my body just makes a lot of hcg.


----------



## Ljd401

Lizle I'm sorry to hear about you being in the same position :-( what were your bloods? How are you doing? We went to the Fetal medicine centre in Harley Street yesterday and we had a detailed scan in which they looked at all the markers for downs. These all came back negative. We were a 1:23 risk but on looking at these we are now 1:400. They said downs babies can still appear normal on the scan but that this was a good sign. We are now awaiting our panorama results. Keeping everything crossed. I'm not getting my hopes up too much xx


----------



## Andypanda6570

Ljd401 said:


> Lizle I'm sorry to hear about you being in the same position :-( what were your bloods? How are you doing? We went to the Fetal medicine centre in Harley Street yesterday and we had a detailed scan in which they looked at all the markers for downs. These all came back negative. We were a 1:23 risk but on looking at these we are now 1:400. They said downs babies can still appear normal on the scan but that this was a good sign. We are now awaiting our panorama results. Keeping everything crossed. I'm not getting my hopes up too much xx

Aww that is great news!! I am so happy for you..XO <3


----------



## lizlemon

I was given 1:28 no markers found on detailed scan at kings (same one they do at the clinic - I was already having in depth one as lost a previous baby to T13 in 2011 beta hcg was 2.8 and papp-a was 0.58. My level before bloods was 1:147 (due to age and provirus trisomy) then reduced to 1:28 due to bloods. Saw my local consultant and she said she would have opted for harmony test too. It's going to be a long wait! Can't believe I'm facing this type of thing again.......holding on that everything looked good on scan and we might be the lucky 27!


----------



## Ljd401

So sorry to hear you are facing all this again. It's really awful isn't it. I'm so anxious because I know that babies can appear normal on scans even if they have Downs so this is always in the back of my mind. I literally cannot switch off from it :-( we should hopefully have our blood results back around Tuesday. Hoping we are the lucky 22 & that you are in the lucky 27. Keeping my fingers crossed for us both. It's a good thing you are being seen at Kings Hospital. Do they do the Harmony test for free as part of a trial?xx


----------



## Wriggley

Hay hun I had a Low papp-A with my second son and they think I must have had it with my first son too! (I declined testing with my first but had it with my second)

I also had a low hcg level too! - I wasnt considered high risk for anything all my chances were in the 10s thousands but the risk for Edwards syndrome was 1:850 :/ which is still a really good result but I remember still panicking as its was considerably different to the rest of my results. 

low papp-a does not mean your baby will have downs hun :hugs: 

have they spoke to you about taking aspirin? papp-a (pregnancy associated plasma protien - A) does elevate a few general risks with pregnancy and aspirin is proven to help reduce these :) - also there are no guidelines that doctors have to follow but the general rule seems to be that you shouldnt go over due


----------



## lizlemon

No kings don't free the test - we paid for it at the fetal medicine clinc - £400 as no scan as had scan the day before. The two teams work alongside one another.
I'm on aspirin and clexane already due having anti phospholipids antibodies and lupus - I'm a right one!


----------



## Wriggley

lizlemon said:


> No kings don't free the test - we paid for it at the fetal medicine clinc - £400 as no scan as had scan the day before. The two teams work alongside one another.
> I'm on aspirin and clexane already due having anti phospholipids antibodies and lupus - I'm a right one!

oh my! your just like me I was on clexane too and have antibodies!


----------



## lizlemon

Yes I appear not to do things by half!!!

Ljd that's good that your results will be back so quick, mine won't be back for another 12 days


----------



## dollych

Hi Ljd,
I'm so sorry you are going through this. I know exactly how you feel because I went through the same thing in November.
My blood tests came back high risk for downs 1.86 my hcg was 5.4!! & pappa 1.4 nt 2.4mm I'm 37.
We decided to have an amnio, difficult decision, but I needed an answer and amnio are supposed to be nearly 99% accurate.
Anyway the results came back all ok :)
We also paid private for the harmony test & that came back all ok:)

I also felt really sick in the early weeks which explains the high hcg.
I have a low lying placenta too which hopefully will move. I'm 30 weeks now and have had extra growth scans & he's growing just fine & everything appears to be ok thank god!!.
Please don't worry too much ( I know easy for me to say) hopefully everything will be ok.
Good luck xx


----------



## Ljd401

Thank you for your support. I'm glad to hear that he is growing well. Will keep my fingers crissed that you have a smooth pregnancy. It's such a worry being given results like this :-( We should hopefully have our results back by Tues/Wed xx


----------



## Baby_Dreams

Hope you get the answer you want Xx


----------



## Ljd401

Thank you very much xx


----------



## Medzi

Good luck :hugs: Sorry it is so scary. Not much longer to wait for the results.


----------



## Ljd401

Thank you so much for your support girls. Panorama came back as 1:10,000 risk. I am absolutely thrilled  I can't quite believe it!xx


----------



## Medzi

That is fantastic!! Huge hugs! :D


----------



## lizlemon

That's brilliant! Such a relief for you. Just a week for me now x


----------



## Ljd401

Thank you girls. Lizle please keep us updated. Will keep my fingers crossed and will be thinking of you. Sending lots of positive thoughts your way xx


----------



## lizlemon

StArting to get nervous now, I had a nightmare last night that my baby has Edwards or pateus syndrome (which is what I lost my first baby to) I had not considered this possibility before as my risk numbers were good but it's given me the willies.


----------



## Jmommy

Just wanted to say I have a 3 1/2 year old son with Down Syndrome. It was a complete surprise to us at birth. I was just 22. I understand how hard it is to hear those words and I do hope the best for all of you ladies. I just wanted to open myself up to you and let you know you can PM me if you have any questions.
These past 3 1/2 years with my son have been an incredible journey, a lot of tears, and a lot more joy! GL to all! :flower:


----------



## lizlemon

Thank you jmommy, I definitely will be asking top tips if his little one had Ds xxx


----------



## lizlemon

Got our Harmony test results back today less than 1:10000 for all trisomy conditions. So relieved that our little one does not have Edwards nor patau syndrome.


----------



## Medzi

Very happy news!!


----------



## Ljd401

So so pleased to read this! Fab news!!x


----------



## laura_2010

Hi, Can I join in Please, I had my NT scan Monday and had a Phone call Tuesday 1:126 chance of having DS - I went Yesterday to the Hospital and Had the Harmony test £275.00 and had the Bloods sent off - She said it will be around 9 days so counting down... Mine was due to my Blood HGG, she said it could be a false result or a abnormality - Either way Im happy with the test I have taken and also can find out the Sex :happydance: My scan was all Normal xx


----------



## lizlemon

That's was like me, but my risk was 1:28 but good scan. Longest wait ever, but allowed me time to process xxx


----------



## lizlemon

Good price you got! Where did you get it done? I paid £400


----------



## laura_2010

Thanks hope these days go fast! I had it done at hospital they did all the paper work and sent it off. .. she did say how they have droppedal the price. Will keep you updated x


----------



## lizlemon

Your risk factor is really good, less than one %! Keep positive x


----------



## laura_2010

Thank you its just such a long wait it seemed forever getting to 12 weeks then a great scan then a phone call..... amazing test tho I think I might ask the sex too I dis tick to know xx


----------



## Ljd401

Did you get your results?x


----------



## laura_2010

Hi, I got my result all Clear - :thumbup:


----------



## Ljd401

Fantastic news  really pleased for you xx


----------



## babifever

Bump stand by for post


----------



## babifever

In my situation I was first told I had a chance our baby would have DS or another genetic disorder. This was based on NT Scan which revealed extra fluid behind neck. I believe it was 3.0 mm. We then got the Harmony Test, which came back negative. Well yesterday I go to get a Anatomy Scan at 16 weeks and a white spot was seen on his heart (Echogenic intracardiac focus). I was then told that regardless of the negative Harmony results, that it does not cover EVERYTHING (nor is as accurate as Amino). I was told this is now the second indication of DS or another Genetic Disorder. No more determinations were made during the Anatomy Scan because he wouldn't fully cooperate and they said it was too earlier. I'm scheduled to go back in my 19th week. Amino was offered but I fiqure it's no use because we are going to keep the baby regardless.


----------



## lizlemon

Bless you, I know heart conditions can be part of Ds as well as a condition in their own right. I too had high risk for Ds and that came back negative on the harmony test so I was dreading the 20w scan that was done at 18w for me. Luckily we look like we are in the clear. IF your little one turns out to have heart issues they now can do south that it is not the end of the world it once was. Having read LOTs in this it would appear that markers are often seen and they mean nothing in the end! 
Good luck xxxx


----------

