12 weeks screening for downs.. help needed

[Kayleigh121]

Hi all.

Just looking for a bit of advise, I had my 12 week scan on Friday and had the screening down downs, Edwards and Pataus the test they done in the scan seemed to be normal, but my blood test has come back as high risk. They called me this afternoon and told me that it would be 1 in 104 chance of Downs and 1 in 140 for Edwards and Pataus. They have said they can do the other testing etc but it runs a risk of miscarriage. Has anyone else had the same result and everything been fine? What are the other options?

Sorry you're going through this. I would look into the NIPT test, sometimes called the Harmony test. It's done privately- results in a week and no risk to baby as it's just a blood test taken from your arm.

I had one as my nhs triple test showed 1:300 for downs, but my NIPT came back all clear and healthy.. and bonus, we found out the sex

Xx

Some NHS trusts are now offering the NIPT if your combined screening comes back high risk. You could ask if your hospital offers this although I would have thought they’d have mentioned it when they phoned you.

Good luck op

If any additional help as per records in notes

CRL - 60.2mm
Screening for Tr21 and Tr13/18 - 2.70mm

The midwife on the phone said it was all to do with the blood test.

This was me 25 years ago! I was higher risk because of my age, I was 33.
I saw the consultant and asked his advice. He pointed out that I was at greater risk of Downs than miscarriage following amniocentesis. I hadn't a young child, just started as a teacher, lots of debt and felt I needed to know if my child was going to have a disability. My sister had a baby with Edwards syndrome which didn't survive the pregnancy. I have worked in special schools with Downs and know that the degree of disability can be extremely varied. Tests don't indicate how disabled.
The baby was very much wanted and I knew that I had been lucky to conceive so quickly as it had taken me 2 years to get pregnant with my first. I went into practical mode, had the amnio, waited a month for the results then luckily had good news.
One thing to consider is that each health authority have a different point at which they consider you to be high risk. If I had lived in a different area, it wouldn't even have been considered a risk.

To add to my post, I wanted to say, if you don't have any concerns about possibly having a child that could potentially be very disabled or have a life limiting condition, then just go with the flow.
But if you have the tests and they come back positive, you then have to decide what to do next. That's the hardest part.

From what I’ve read on here. Some hospitals offer the more detailed blood test (not the routine one you have) like Harmony for free is you are high risk and others you have to pay.

We were 1/85 for downs based on high NT measurement, we chose to have CVS as it gives a definitive yes / no response not just a probability and they also screen for other abnormalities so any heart conditions etc. I’m really glad I had it - it massively put me at ease to know there was nothing wrong... but it is a personal decision and it does come with associated small risk.

Thinking of you, I know what a stressful time it is. Xxx

@Soontobe60 thank you so much for your reply.. I am in two minds on what to do but most probably going to pay for the private screening but again it’s only a screening and isn’t 100% the percentages of the baby being either are so low but the worry is there of course.. I have a scan at 16 weeks (23rd December private scan) so any abnomatatlies could be detected on the scan then? I then have another scan in January. I’m just debating whether to wait until them scans and stay positive or to pay now for the Harmoney testing.

But again thank you so much for your response and everybody else I really do appreciate it and apprecite the support.

It is technically a screening but the NIPT is still looking at the baby's DNA and the chance of getting a misleading result is tiny. I am 29 weeks at the moment, I had a harmony test done after my NHS Downs result came back 1 in 5 (like you it was because of my bloods). I was so so upset so then when the Harmony came back 1 in 10000 it was the biggest relief of my life and I really can't imagine how stressed I would have been throughout this pregnancy had I just waited to find out, so I would really recommend it if you can afford it.

Good luck with whatever you decide!

Yes the NIPT is a screening test but it is very very sensitive unlike the combined test we have at 12 weeks. I think it’s to do with the false positive rather than the false negative rate. Have a google there are loads of articles out there. I’m not very good at explaining it sorry

NIPT is 98-99% accurate with almost no false positives. 12 week scan and blood screen is 75% accurate with false positives occurring.

I had NT measured and was fine but no bloods done. It is optional where we live and I haven't had my hcg measured ever. We went straight to NIPT. We would have done it anyway - even if blood screening wasn't a problem. We're both scientists (my DH was a biochemist - geneticist in his past life) and honestly I just love the science of it. So we knew straight away we wanted the test.

My scan was fine but bloods came back with a 1 in 80 chance of downs.

I refused an amino as I had decided that I would keep the baby if it had downs.

Well it turned out he did not and is 14 now.

I will take what I said back about the false positive rates after _PBobs post

Yes, I had the Harmony test and then also the CVS test in one afternoon as the nurse said it was better to be totally certain. The CVS test needs a local anaesthetic as the needle is relatively thick - but I'm really squeamish and coped fine so I wouldn't let that aspect worry you.

That pregnancy actually came back positive for Edwards, but after waiting to do an amnio at 16 weeks (which is a very thin needle and not painful) it turned out the Edwards was just in my placenta and not in the baby! They actually suspected this might be the case as Edwards is severe enough that I think they normally expect to see visible signs of defects such as heart problems.

I've also just had an amnio again on my second and current pregnancy as it came back high risk for Downs, but we're all clear on that

@Worieddd - I think we're saying the same thing?

Any other advise or outcomes?

@Kayleigh121 I hope you're doing ok, it can be really scary when you're in that position and feel like you don't have enough information.

My advice would be to think about whether a positive result would change the outcome for you. If yes, then do as much as you can to inform yourself of the options.

When faced with a similar situation earlier in the year, DH and I decided we wanted as much info as possible to help us decide next steps. The hospital offered a CVS test which we decided to do. The risk of miscarriage is extremely low. As it takes tissue it's 100% accurate as compared to the NIPT blood tests. At least then you know for sure and if it's a positive result you can decide what to do next.

Best of luck on your journey - hoping for good news for you!!