HcG high and PEPP-A low but scan was fine

[ScaredDad]

Hi all,
my wife(she is 25) recently had a Nuchal Test at the local NHS hospital. We recieved a letter saying that the chances of our baby having Downs is 1:9 and obviously were distraught, we decided to have another Scan done Privately and on it Everything appeared normal, nuchal fold 2.9mm, nasal bone present, heart fine... basically the fetus looked normal but her bloods were bad. Hcg 2.786MoM and Papp-A 0.497MoM which gave us a 1:35 chance. We have a cvs booked for this week but we are both terrified. Can anyone give us some advice as we would like to hear if any of you have had a similar experience/numbers and what the outcome was. thanks in advance

We had a 1 in 62 chance following nuchal fold scan done privately. We were then given option of amnio or heartscan as many down syndrome children have heart defects. We opted for heart scan, just to help us prepare. It was clear. Baby was born without any problems. Once you have the original odds they won't change them but you can gather a lot more info. The heart scan cost around £300.I hope you get some good medical help and support.

I honestly thought I'd written this message.. although I am 34.

Week before last I had a perfect NT scan (1.6mm) but high HCG (1.91) and stupidly low PAPP-A (0.2) bringing my odds to 1 in 60. We paid out for a highly detailed private scan at the Fetal Medicine Centre and there were NO soft markers, nothing. The scan was perfect. The bloods improved slightly (0.29 and 1.71), the NT got worse (2.2mm) and for whatever reason my odds reduced to 1 in 34. The odds from just the scan were something like 1 in six thousand.. heh.

However the doctor who did the scan said that she would expect to see some soft markers if there was a problem. She said sometimes bloods just come back at bad values and they don't know why. She was an absolute expert in the field, I googled her when I got home and found she'd written research papers, contributed to major textbooks etc on the subject.

I have heard that 97% of babies with a good NT measurement (under 3mm) do not have Down syndrome. Most do not have a nasal bone either. Makes me wonder how they come up with these calculations on odds though if those facts are true and the NT scans look good. Feels like too much weighting is being given to bloods, it really does. But I am not an expert!

Unfortunately due to another pregnancy-related issue (long story, love being double high risk, not!) I couldn't have a CVS despite being strongly recommended to, so we just have to wait it out pretty much. This is fine by us as we have chosen not to terminate for Down syndrome. We'll probably go for more detailed scans (privately if the NHS won't) to get a clearer picture later on and maybe an amnio at 32 weeks so we know for sure but don't risk the baby.

So no news on the outcome, but I just wanted to sympathise and tell you a little of what I've learned as we're basically in the same boat. I hope you get great news!

ScaredDad - sorry, I cant help you much, Im currently waiting to get my blood results back after the dating scan. My NT was exaclty like yours at 1.6mm, which was a big relief, but of course the blood results might swing that.

Have you asked what the risk would be if you dont</strong> take in the blood results, just your wifes age combined with the NT measurement?

I sometimes do wonder how reliable these markers are...and you hear very conflicting stories and reviews! Generally, the consensus seems to be that they all need to be taken with a pinch of salt, they are only predictive, not diagnostic tests! At least the CVS will give you definite results.

I`m wishing you both all the best of luck!

thanks for the support guys,
JBrd the risk on scan alone with my wifes age was calculated at 1:4500 but it was the bloods that worried us both.

Hi Scareddad - it could've been my husband writing your first post!

I am 25 and in April had the nuchal scan; despite the nuchal measurement being "normal" - 2.5mm, my bloods were "bad" and we were given the odds of 1:65 for Downs.

I was absolutely devastated, and we went to see the Consultant the next day, who despite being lovely was a bit useless to be honest. We were given the choice of CVS / Amnio or nothing. We decided against any diagnostic testing as it wouldn't have changed how we felt about the baby, and it felt to invasive for us (but that was a very personal viewpoint, and I would never judge anyone who did want diagnostic testing).

I am now 38weeks and all our scans (NINE to date!) have gone smoothly, no soft markers etc, and as a result our odds have gone down to 1:120.

I can't really advise you any further but wanted to say that you aren't the only people this happens to, and the odds are very much in your favour. I have also heard that the bloods can be effected by a number of factors, but am not sure whether thats hearsay or fact...

Theres a good section of the board on Mumsnet called "Antenatal Tests and Choices", where a lot of people who've had similar experiences can advise you, and the organisation ARC are supposed to be very good.

Best wishes, and try not to panic too much.

Hi ScaredDad,

I totally empathise. I'm now 21 weeks with my first and have just turned 40. I work with children with disabilities and my brother is disabled so I was very worried about the triple test result, as I felt I couldn't manage anymore disability in my life.

My results were almost the same as yours and I worried myself sick about it. But later had a change of heart, and I now feel that the triple test is actually a complete waste of time for many people and causes a great deal of unneccesary worry for parents. The chances of having a child with Down's Syndrome, whatever your age, are extremely low (1 in 1000) although of course it does happen. But I know people who came back with a very low risk and went on to have a child with DS (dearly loved)and people who had very poor odds who went on to have a child without DS. It seems to me that it can happen to anyone but the chances of it happening are pretty remote. And besides, by the time the results of the amnio come back it is getting relatively late into the preganancy. I realised I couldn't do anything about it anyway.

I was offered the amnio but cancelled it and the 20 week scan looked ok. I've decided to stop worrying as I know my baby will be loved whatever. I wouldn't take the triple test again.

Try not to worry, the chances are everything is going to be absolutely fine

I had a 1 in 40 risk for my first baby on bloods but a 1 in 1200 on nuchal scan and ended up having an amnio. In my 2nd pregnancy I refused the blood test and just had the nuchal scan. Both babies were fine. I just had a 3rd scan (3rd preg) today with nuchal measurement of 2.5 and yet a risk (including bloods & age) of 1 in 7 so they recommend CVS & everyone is very tense and miserable. I wish I had not had the scan... but there again, now I can't bear not to know. It's terrifying. I have a CVS booked for next week - but from reading your posts above I'd be interested to know what my odds were on scan alone. This is too confusing.
Good luck with your results, I hope your babies are all well and healthy.

Have had almost exactly the same thing. 12 week scan excellent, nasal bone present excellent NT (1.6mm or 1.2MOM) but high HcG at 2.75 and low PAPP-A at 0.54. I'm, 35 and this gives me a 1 in 68 risk of Downs. Been offered an amnio (I live in Spain) but will take 4 wks for results unless I pay (a lot) to have it done privately. No CVS available. So at least a 4 wk wait for me.
www.arc-org.uk have a helpline to ring and are great (antenatal results and choices) they pointed out that a 1 in 68 risk is 1.47% chance of a downs baby and a 98.53% chance of an unaffected pg, which made me feel a little better.