Screening at 12wk scan - what did you do and why?

[Mimba1]

Interested in people's choices and why they made them and whether they would do the same thing again.

I hope to be an older first time mum (nearly 37) so I know my risk is higher and have had 2 MC this year after 3 years TTC. It's been a long journey. DH thinks it's a no-brainer and we should have the screening. I'm wondering whether to - I'm not sure I would choose to have amnio if it came back high risk given the risk of MC from the procedure (one of my MC was after seeing a heartbeat at 8 weeks - I've been on the wrong side of 1% odds before...) And if I'm not going to follow it up what's the point of having the scan and possible worry? Obviously it could come back fine... am I overthinking this? I'm still worried I'll MC before then as well and the whole thing will be irrelevant (2 or 3 weeks to go)! I am a crazy lady!

@janinlondon I didnt realise you can go straight to diagnostic testing, that's really interesting. Were your midwife team supportive in arranging it?

@Mimba1 For me it was more about having all the information. In Scotland they only screen for Downs Syndrome as standard so we had that test done. A high risk result would not have affected our decision on whether or not to continue with the pregnancy but would definitely have encouraged us to do as much research as we could into what additional support may be needed and to encourage our families to also do some research.

@Mimba1 it depends which NIPT test I think, we had Harmony which gave us the trisomy disorders plus other things and sex which we wanted to know. We could have opted to have some of the results omitted but obvs if you don’t want to know sex you can’t get results for sex chromosome disorders like Turners.
The accuracy does vary but that’s the point of the scans- if your bloods are normal, scans are normal and NIPT low risk then together it provides reassurance.
I’d only consider invasive tests if all 3 suggested an issue.

My NIPT, scans and bloods all suggested things were fine so I was advised not to get the combined test results as they would automatically be moderate to high risk due to age when it was already clear from the scans and NIPT that it was low risk. Well worth the £400.
I would bot have continued a pregnancy with a condition incompatible with life. We would probably have terminated for Downs too but not for certain. But either way I wanted to know as early as possible. I could have had NIPT at reduced rate via NHS but only after 12wk scan and combined test result and didn’t want to wait that much longer. There’s a big difference between knowing at 11wks and 14wks if it’s bad news.

In Scotland they only screen for Down's syndrome so we chose not to as we would not have chosen to make a decision due to that information. I think we would have taken it if they had also tested for Edwards/Pataus to have that information and make an informed decision.

Had no screening, as I wouldn't have terminated due to the results.
I had genetic screening for DS 3 when he was born as DS2 has a life limiting genetic condition.
I had genetic counseling after DS2 was diagnosed as a baby. And even after that I knew I wouldn't act on any results, and there was no guarantee that the baby wouldn't have other disabilities that weren't screened for.
DS 3 has autism so my thinking before getting pregnant and during pregnancy was confirmed.
You never know what you are going to get so screening to be prepared didn't make sense to me.

I was 35 when I was pregnant. I opted out for the tests. My reasoning was that I wanted the baby no matter what and the further tests were risks I wasn't prepared to take. I believed that whatever I was given I would face it when it came along.
I can say I was blessed with a healthy baby 2 weeks early but still perfect.
Given the choice now, I'd still choose the same.
Congrats on your pregnancy and I hope everything goes well ♥

We chose not to last time. I considered it this time and told the midwife it was because it would be nice to be prepared. She said I would get a low/high risk so actually wouldn't be any more prepared unless I did the extra test so we probably won't bother this time. Like many have said it wouldn't alter the outcome anyway

Reading this with interest and wondered if anyone could explain to me what each test is and when you would have it?

Is NIPT a private test like harmony?
I’m assuming the NHS test is the one where they look at the scan measurement? When does this happen at first or second scan?

I’m 6 weeks pregnant with my third (should know all this really!) but am 39 so feel higher risk and would like to explore the testing available. I didn’t really worry for my first two children and was low risk.

My booking in appointment is scheduled when I’m 9.5 weeks and my scan isn’t till I’m 13 weeks. Does that seem late? I’m worried I’ll miss testing and my letter said I need bloods taken before 10 weeks.
Thanks

@HomeTogether

Reading this with interest and wondered if anyone could explain to me what each test is and when you would have it?

Is NIPT a private test like harmony?
I’m assuming the NHS test is the one where they look at the scan measurement? When does this happen at first or second scan?

I’m 6 weeks pregnant with my third (should know all this really!) but am 39 so feel higher risk and would like to explore the testing available. I didn’t really worry for my first two children and was low risk.

My booking in appointment is scheduled when I’m 9.5 weeks and my scan isn’t till I’m 13 weeks. Does that seem late? I’m worried I’ll miss testing and my letter said I need bloods taken before 10 weeks.
Thanks

Yes NIPT (non invasive prenatal test) is a test which screens your blood for fetal DNA. It has various brand names, including harmony. All of them test for Downs, Edwards and Pataus as far as I know, and some offer tests for other, rarer chromosomal conditions but with much lower accuracy. From what I read, the Downs results are extremely accurate - more than 99%. For Edwards and Pataus a negative result is likely to be accurate but there can be false positives. You won’t get a definite answer so if your risk is high you are usually advised to get an invasive test on the NHS (CVS or amnio).

The NHS does the combined screening as standard provided you are seen before 14 weeks. It combines a scan plus a blood test (levels of hormones in mother’s blood as opposed to fetal DNA) and looks for “markers” to give you an overall risk factor. I think the NHS consider high risk to be 1:150 or lower.

I had an NIPT test at 10 weeks but still opted for combined screening as well because a high NT measurement (what they look for on the scan) can indicate chromosomal issues or physical problems which aren’t detected by the NIPT tests. Also if you have low Papp A (one of the hormones they test for) it can indicate possible problems with the placenta leading to growth problems/premature birth in an otherwise healthy baby, so worth knowing that and again it wouldn’t show up on NIPT.

Personally I’m all for being as informed as possible. Just because you can’t find out everything doesn’t mean you shouldn’t find out anything imo.

Gypsywater - yes, I had full support from the team (all NHS - Chelsea and Westminster). I made my case to my consultant. To be fair I think you do have to make a clear case, with medical references, but no one opposed me.

I had the triple screening test. We had already decided that if our baby had any of the "big three" we'd have a termination. The result was very low risk, but if it had been high I probably would have gone for nipt before considering an amnio due to the miscarriage risk.

@janinlondon
Thank you, that's really helpful. I would much prefer to have a diagnostic test than a screening too. Will definitely consider that. I'm 8 weeks now so have a few weeks to go.

gypsywater - I hope you find support for whatever decision you make. I should say that my NHS consultant (who performed the amnio) was Guy Thorpe Beeston, who had a mass of experience. It is important to find a very experienced operator for this procedure - I had total faith in him.

@janinlondon

We've just had the tests done this week, they did them at the hospital straight after the 12 week scan. We chose to be screened for Edwards and Pataus, but not for Downs as we know we would not terminate a baby with Downs syndrome. This is our second baby, and we did the same with our first. They don't tend to tell you that you can split the screening and opt not to have the Downs but still have the others - it seems to be offered as either screening for everything, or not screening. But you can split it, so worth considering.

I chose not to have the screening as if it came back high risk I wouldn’t have the diagnostic test carried out. I’m 17 weeks and have worried since whether I have made the right decision so extremely nervous for the anomaly scan.

I hadn't considered the testing and kind of went along with it. The baby was in the wrong position at the 13 week scan so went entirely on bloods. As I am 39 and a IVF pregnancy I probably shouldn't have been as surprised as we were when it came back at 1/51 for DS. We didn't think it would bother us, and we wouldn't have terminated but I was suddenly worried sick. Especially as the blood test the NHS do doesn't check for any of the other trisomy's. I didn't want to risk an amino so I paid for the NIPT test and then had a long (almost 2 week) wait for the results, which were thankfully low risk. In hindsight, had I have thought properly about the chances of coming back 'high risk' I would have not had the test or gone for the NIPT and 10 weeks for piece of mind if I felt I needed to know. I'm not planing another pregnancy after this one, but I wouldn't want to put myself through those 2 weeks again

We wanted the NIPT privately at 10 weeks, then lockdown happened so we couldn’t get it.

We had the NHS 12 week scan which came back with a high NT reading which caused a high risk DS result on the combined screening. We had a quandary over whether to accept further testing or not, as we felt that we probably would continue with a DS pregnancy.

A consultant rescanned me and the NT was normal! Seemed like the first result was a mistake. I was still offered a CVS which I declined but went ahead with a private NIPT arranged by the hospital. Thankfully that came back low risk, although we’ll not know for sure until he’s born.

We wanted to test, not because it would change the outcome of the pregnancy (although Edwards/Pataus would) but because we felt we needed that information to be prepared. I didn’t want the shock of a DS baby at birth, I’d rather have time to prepare both emotionally and practically.

@janinlondon Guy did my consultant scan at C&W! He’s fantastic. I declined the CVS but would have trusted him to do it if we went ahead.

Thanks so much for your reply @FolkSongSweet that’s really helpful. I will definitely have the extra screening privately as well as the Combined test on NHS.

We had the combined test with dc2. Thought that was the way to go. Came back v high risk (1-5). I didn't want amino. 2 week wait for NIPT (and (£150). Came back negative but nhs didn't recognise it. I was monitored. At birth all ok. Dc now 4 is heathy. My first born is ASD and ADHD. No connection but hey ho she's awesome and that's the way it goes. My point is if you would keep a DS baby (as we would) don't bother. The nhs tests are shite. All they do is make you worry.

@confused107 I just read your reply about testing for genetic abnormalities. I was only offered blood test at my 13 weeks screening and got my results this morning 1:67 chances for Downs, I am 39years old. I had NIPT done this morning and same as you did, have to wait 2 weeks for the results. What an absolute nightmare :( How did it all end for you? Did you get better results with NIPT test? I also have low PAPP A result 0.36 which I think is bad news…

I had screening for Edwards and Patau's but not Downs Syndrome. If it came back as high chance for the first two I would have had invasive testing, but wouldn't have done so for a baby with Down's.

If I get pregnant again I would make a different decision, as I also have my older child to think about. I would possibly still continue a pregnancy with a high Down's chance but would like the opportunity to be prepared

Sorry just saw this is an old thread 🤦

@FakeTanandProsecco
I don’t know what I will do, it’s such a hard decision. I think I am more worried about low PAPP A as that can cause complications… I have read somewhere that ivf pregnancy can have lower readings of PAPP A but don’t know if this is true. I will wait for results from my blood test from this morning and then will see what to do next. I would rather not have any invasive testing either…