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Antenatal tests

High Risk Downs Combined Screening Test Result - Any thoughts appreciated

15 replies

Nicola290 · 26/06/2013 18:08

APOLOGIES FOR ESSAY!!!
Hi, last Friday I had my 12 week scan. Baby was 5.5 cm and the neck measurement was 1.9mm. Sonographer midwife said that was perfect and although I had to jump up and down at one point to move the baby out of a position she was happy with the measurements she got. Diagnosis was normal development but then I had my bloods taken. Hospital rang on Monday to say I'm Hugh risk, low PAPP-A not very low but slightly below average and HCG hormone was slightly above average. My risk is 1 in 94 chance that baby is downs. Today, I had a CVS as recommended. I was fully aware of what it entailed and accepted miscarriage risk but I am a v stressful person and have been obsessing about baby's health since my BFP, without reason until now so it was best to get CVS done. I get my results in next 2 days. I am totally and utterly besides myself. I'm 29 it's my first baby and I'm very healthy. I asked them today if baby hasn't got downs then why the high risk result and she said it could be placenta problems and baby might not growth as well so will be 5/6lb when born which they could deal with or it might relate to high blood pressure in later pregnancy. Thing is my blood pressure has always been spot on and if anything slightly on low side. Any thoughts would be appreciated. I was so excited last Friday after keeping pregnancy a secret I put a photo of the scan on Facebook and now I will have to tell everyone and I don't think I can handle it. Xxxxxx

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Allice · 26/06/2013 18:11

You poor love, must be super stressful for you.
But, 1 in 94 are very good odds in your favour, easier said than done as I would feel the same as you but please try and keep calm.

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tumbletumble · 26/06/2013 18:15

Hi OP, just to reassure that my odds were 1 in 200, amino showed no Down's syndrome and I had a perfect healthy baby of well over 8lb! Try to stop stressing - I know that's easier said than done. Good luck for your CVS results.

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Daisy17 · 26/06/2013 18:20

Hand holding. My baby had 84:1 and he doesn't have Downs and he is 100% healthy. I'm not saying that there isn't something wrong, but it sounds like you think something MUST be wrong, even if it isn't Downs he'll be small or ill because the odds must signify a problem of some kind. That's just not true, there's a very big chance that everything will be just fine. Try not to grieve before you have to. Big hugs and best of luck.

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Nicola290 · 26/06/2013 18:29

Thank you. It's awful seeing my boyfriend so upset although after today he feels a lot more positive. It's because I googled low PAPP-A and if baby isn't downs it seems that there's going to be an issue still so I just think well that's the thing I don't know what to think! I'm in some discomfort after CVS but I haven't had an pain or bleeding in this pregnancy so that's another reason why I felt comfortable getting it down. The doctor today scanned baby twice and said it looks completely normal and we saw and listened to heartbeat after. This is just all so traumatic. I got pregnant within 3 weeks of coming off the pill so that was good but I was surprised at how quickly and then just 13 weeks later there's this shock. Xxx

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Daisy17 · 26/06/2013 19:28

Ah, don't know much about blood, but I do know to STAY AWAY FROM DR GOOGLE! So hard, I know. X.

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Nicola290 · 26/06/2013 21:06

I know I really should but I feel like I just can't help myself. It's worse when pregnant friends or those who have been pregnant say that their risk was 1 in 55 000 or 28,000 xxxx

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massagegirl · 28/06/2013 08:29

Hi Nicola. We had 1:12 odds. Amnio was clear and she's now 1 month old. I know how hard it is. Hand holding. I was forever on google... Don't do it!

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Nicola290 · 01/07/2013 15:44

Hi, I got the results back I think they are called FISH results and they are all clear, the baby is fine and is a boy! Although I should be relieved and I was after I got the results, anxiety is still eating away at me and I feel mentally and physically exhausted! I have a low PAPP A not very low just below average the midwife said (I don't know the exact figure I suppose I should call and find out) and she said this might mean you may require extra growth scans. I now have a scan booked at 18 weeks and then they will know from there if I need extra growth scans. She also said the low PAPP A might be to do with the placenta and it not functioning properly. Consultant said it appeared to be normal when he scanned me before CVS test but they said they don't actually know until the 18 week scan i presume? Do you think I need to go private for a scan and to discuss a low PAPP A result? This is my first pregnancy and I don't know what to think now as it's been so stressful and I am only 14 weeks. I have sickness everyday which I can handle but I just don't know if there is something wrong or not and I am so worried. Any thoughts would be appreciated and thank you for your comments so far, really appreciate them xxx

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LemonPeculiarJones · 05/07/2013 11:26

Is so stressful isn't it? We had low Papp-A results but growth is fine.

They've found out your baby hasn't got any abnormalities - just absorb that and feel relieved and wait until your 18 week scan. Easier said than done but it sounds as if you got so (understandably) stressed during your wait for results, your body isn't ready to relinquish the stress mode it's got into. You probably have loads of adrenalin coursing around your system. The best thing to do is to try to relax - get some relaxation/hypnotherapy apps or CDs and focus on allowing yourself to calm.

You're doing everything right, don't worry. The medical experts talk about 'maybes' but they are very unlikely.

Your Papp-a is only slightly below average. I really wouldn't worry. You've got a healthy little boy on the way Smile

Hang in there!

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Nicola290 · 08/07/2013 14:11

Thanks LemonPeculiarJones, I am only coming up to 15 weeks as well. Feel like I have been through so much already! Well after stressing about my low Papp A I am now worried about the full results. I thought once I got the main results back after two days that would mean the baby is fine and dandy but now I am worried about the full chromosome test :(

I called the hospital earlier and they said the results weren't back from the lab yet but she said she will call me once she has them before she sends a letter in the post. Full term cultures I am sure they are called or something like that

It sounds so scientific and when I Google some people have said that while their FISH results were normal, their full results indicated issues?? I thought if you're FISH results were normal then the baby was ok.

Any thoughts on this? And apologies that you feel like you're going through this pregnancy with me! Just I have no one to talk to it about it as no one I know has had the CVS test or even high risk screening result which led to all this xxx

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5amisnotmorning · 11/07/2013 12:54

I had a 1 in 2 probability, high nuchal, even worse bloods. I had a clear CVS back and continued monitoring for heart problems in DD. My first words when she was born were 'is she ok?'. I couldn't believe that these results were so horrendous without having some meaning.

She turned 2 a few weeks back and is fine.

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Nicola290 · 13/07/2013 22:29

That's great news @5amisnotmorning, well I got the all clear for CVS full results too and the letter says my PAPP A is 0.24 and when I google it things like baby not growing anymore or still birth appear and that's freaking me out :( I thought seeing as full CVS results were clear my baby is healthy and happy and now I'm so scared he's not growing and there's something wrong with my placenta. I'm 15 weeks and can't believe the stress I've been through already. I have an 18 week scan on August 8th but that feels ages away and I want to know the baby is ok right now. I'm still being sick most days and I started to calm down a bit but as this letter is telling me a 0.24 Mom I feel stressed to bits again!! Does anyone have any advice?? Xxxx

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MrsJ78 · 18/07/2013 12:07

This reply has been deleted

Message withdrawn at poster's request.

AngeDriver · 04/04/2014 23:25

Just wanted to share my experience, i had a NT of 1.6mm and my risk came back at 1 in 25, it was such a shock after getting the low NT. I went to Fetal Medicine Centre and had another Combined Test, the risk then came back at 1 in 12!! However, i had been experiencing some bleeding in my pregnancy and was diagnosed with a Haematoma, the sonographer told me that the bleeding wasnt harmful to the baby and would sort itself out, the reason i got the high hCG level and low PAPP level was because of the bleeding I've been having as these results are from the placenta the bleeding explained my 'off' readings. I decided to go ahead with the Harmony Test anyway and everything came back as very low risk, less than 1 in 10,000. It was such a relief and i wonder how many other women out there get the wrong High Risk result due to bleeding in their pregnancy or other factors that are not considered in the Combined Test.

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Ashbeeee · 05/04/2014 06:24

I had same with my boy, and cvs showed dodgy chromosomes. Turned out I had the same dodgyness, and so did my mum and we are as normal and healthy as the next man (ahem), so there can b very good outcomes even if it sounds scary. He was born exactly on due date, perfect specimen, at 9 pounds. Beautiful birth and now a genius (!!!) 11 yo. So we now joke about the chromosome dodgyness together.
Do relaxation techniques and try to focus on something else, which is difficult but what you need right now. One day at a time. You will cope with whatever is thrown at you, humans are good like that.

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