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]

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

 

[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

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]

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