High Risk of Downs Syndrome

[Puddlejumper1]

I received a call today to tell me our baby is at a high risk of downs syndrome following our combined screening at our 12 week scan. This has come as a complete shock to me as I have had two completely healthy pregnancies and I am only 27. We are obviously still really shocked and trying to process the information and where to go from here. My question is, if I choose not to have any further testing and to go forward with the pregnancy as normal, will my pregnancy then become high risk and therefore consultant led? Or will it continue as normal?

Hi OP. Sorry you are going through this, I was in your position very recently. My hospital offered me the non invasive harmony blood test which is much more accurate as looks at babies dna. The results came back within a week and were all low risk 1 in less than 10000! Would that be an option your you? The waiting was the hardest part. Were you told what made you high risk? Mine was low Papp-a.

We have been told about this option however it is not available on the nhs and in our area would cost around £400 to have privately. I have been sent my results but they dont really mean anything to me it's just a load of numbers? Im glad all worked out well for you

I had this I had a 1:25 for downs and 1:60 for the other 2 was a total shock as I had has 3 healthy pregnancies I decided to have the amnio as I had decided if it was something serious I would not continue the waiting for the results was the hardest part but all results came back clear and I found out I was having a little girl.sorry your going through this it's such a hard time xx

Just to answer your question about how the pregnancy would continue if you did nothing, in my experience, but this was some years ago, my pregnancy just continued as normal. I don't have amniocentisis, which was all that was available then, as I had already lost a twin and the chances of losing the baby were higher than the chances of him having Downs. It didn't seem worth it. There was a further, not conclusive, test in the 20 week scan which was able to look for markers. So, you would still have that option under the NHS, though obviously it would be harder to choose to terminate at that late stage.

What is your risk level?

Thank you all for your advice. My risk level has come back at 1:120 which I know is not excessively high but still high enough to be classed as high risk

Sorry you got that phone call I know myself how much of a shock scare it is I got my result back just before Christmas my risk was 1 out of 113 for downs I was then offered the harmony test on the NHS which is a safer and more accurate test they gave me a scan to look for any red flags and then blood test to test the baby's DNA I got my result back and was low risk 1 out of 10,000 please check with your NHS trust to see if this is available for you as I know it's pretty much a trust lottery also if they don't offer in on NHS you can get it done privately but also that depends on your money situation as it a few £100

OP. I am sorry you are facing this. I in 120 may seem high but actually it is less than 1%, in any other situation we would think that means there are high odds of a good outcome.
£400 is a lot of money. I would say what would you do if you knew 100% that the baby had Downs? Would you have the baby. If so I wouldn't have the tests and I think the pregnancy would probably then just carry on as normal.
FYI I have a brother with Downs and growing up with him was a pleasure. I also know someone whose daughter has Downs she had no idea until she was born as her screening tests didn't came out high risk for Downs. So you really never know what might happen.
Good luck whatever you decide.

@Puddlejumper1 on the list of your results does it have a number for Papp A, HCG and NT? If you put those numbers we can probably help you with out what's giving you a high risk factor.

I was given a 1:5 risk for Downs Syndrome and 1:100 risk for Edwards and Patau. The Harmony test was only just starting to be used over here and was only offered as a private option. I chose to have an amino and also paid for a full kareotype report. Everything came back as normal. In my case a very high HCG plus an extremely low Papp A made my risk so high and the low Papp A was responsible for restricted growth and at the end sudden onset pre eclampsia.

It all worked out fine though and I now have a relatively healthy daughter and went on to have another issue free pregnancy as well.

@PurpleGoose my nuchal measurement was 2.5mm, HCG was 2.31 MoM and PAPP A was 0.73 MoM
From what I can see from google both measurements should be as close to 1 as possible for a 'normal' range x

You might be having extra scans in Fetal medicine. They will tell you you can gave the invasive testing which you can have or decline. You will be usually offered extra scans, but if they look normal you won't be having many during all of your pregnancy.

Was told with my second baby I had a 2% chance of Down Sindrom, due to the anomaly scan detected some issue with kidneys and brain. We didn't gave NT testing that pregnancy.
We refused invasive testing but continued to have every four weeks scans because of his problems with kidneys and brain. Our baby unexpectedly died one day old but wasn't down.

I hope thus helps.

What I see this days is that you have to push for more testing which you agree with. I didn't wang the invasive ones because of the risk of miscarriage. But I think you should still have a lot of care independently of terminating or way of testing you wang to be having.

I never got any testing for downs not even the original blood test
Just carry on your pregnancy as normal
At your 20 week scan they will be able to pick up on anything abnormal

I must preference this by saying I'm not medically trained, this is just knowledge I picked up during my experience and from reports and studies that I've read.

Your Papp A and NT would both be considered normal (0.5 -1 is normal for Papp A). Assuming it hasn't changed recently I believe that 2.22 is the threshold of normal for HCG, so that would make yours high, but not by a great amount. I suspect that this is what is giving a high chance result for T21

The only way to know for sure is an amino, but obviously that has risks (although do look at the data for your specific hospital and of you can get it the actual consultant who would perform your amnio - mine was a lot lower than the national average risk)

If you do want to know more, rather than just carry on the organdy with no further testing, a good compromise might be paying for the Harmony if you can afford it, as that would give a clear picture.

Also don't be afraid to ring back the fetal medicine team, we had a really good face to face talk through our options with one of the fetal medicine midwife's before eventually deciding that for us an amnio was the way to go.

Good luck with whatever you decide.

I got 1:3 risk for downs. I had amnio and all was fine. I had low Papp A and ended up having pre enclampsia.