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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Original poster

1:42 Down's syndrome results

44 replies

Jaxtellerswife · 08/10/2018 16:03

I feel evil for even posting this..i had the quad blood test at 16 weeks due to baby not behaving for the 12 week scan.
The hospital just called and said the risk has come back at 1 in 42 chance. I have an appointment tomorrow with my partner at the FHU to discuss what options there are for tests, if we want any.
I'm extremely worried. I can't see much online about what tests are offered apart from amino or even decide if I want up risk that.
I'm sure many have been where we are, I just didn't expect it. Does anyone know apart from the amnio what other options there are?
Thanks

OP posts:
MadeForThis · 08/10/2018 16:20

You can pay for the harmony test. Around £400-500. It's a simple blood test on you. The results comeback in a week. Very accurate. If it came back positive you could still have an amnio to be 100% sure.

My quad test results came back 1:5 we did the harmony test and it came back 1:100,000. Dd was born with no issues.

I wanted the harmony as I scared of the amnio miscarriage risk. We'd previously had a mmc. Although I think the risk is actually quite low.

DailyFailAreTwats · 08/10/2018 16:27

I second the Harmony test. Non invasive, pretty definitive and quick results. Worth the £ to give you some certainty either way. Like the previous poster, if it came back high risk for Downs I'd have had the amnio at that stage too.
Good luck.
Xx

Original poster
Jaxtellerswife · 08/10/2018 16:40

I'm tempted, I've just looked it up and it's 400 in this area. My brains frazzled. Thankyou for replying xx

OP posts:
numberseven · 08/10/2018 16:45

I had 1/40 for Downs and 1/50 for one of the worse ones, I think it was Edwards. I had the Harmony test and it was something like 1/10000. Baby was born completely healthy.

umizoomi · 08/10/2018 17:07

Been there. It's awful, my blood results were much worse though.

Rather than one in 42 think of it as percentages. It's a 2.4% chance of your baby having a problem.

So 97.6% no problem.

I had an amino which was fine.

bluesky45 · 08/10/2018 17:33

You can search for my thread if you want, it's called 'nuchal thickness'. My blood results came back as 1:44 just last week so it's very similar to yours. We had our meeting with the midwife and we're told about the nipt (harmony) blood test, which is private as discussed above. We were also told about the amnio which we would have to wait a few weeks for or a CVS which sounded similar to the amnio but you have it a bit earlier. I think you would be able to have the nipt or the amnio at 16 weeks. We went for the amnio in the end, had it done last Wednesday, just waiting on our results to come back. There was some good advice on my thread if you want to have a nosy. Sorry you are going through the same worry.

Original poster
Jaxtellerswife · 08/10/2018 17:53

Thankyou I will have a look. I hope all goes well for you xxx

OP posts:
Observatorycrest · 08/10/2018 18:46

I had the CVS but was 13 weeks due to having a 1:4 risk and my little one was fine. At your stage it would be an amnio and as others said you can have the harmony test. Shocked people have to pay for it as it was offered free where I am but I wanted to find out quickly so went for the invasive option. Hope all goes well

Namelesswonder · 08/10/2018 18:50

Good luck, I was 1:4. I had a detailed scan which showed no major issues with heart or other major organs and decided to wait it out (this was 10 years ago). I had a perfect baby.

Emmafh3 · 08/10/2018 21:39

I never came back with high risk, but did think about it when we tested.
My thought process was, even if I did come back and babe did have downs syndrome, would I still continue the pregnancy regardless?
I would have, and therefore wouldn't have bothered with anymore testing because it wouldn't have changed my outcome, but for those who wouldn't have continued, perhaps testing more is the next step.
I know it gives you no real advise, but sometimes a different perspective helps.
Good luck, and fingers crossed for you x

DragonGoby · 08/10/2018 21:41

I had an amnio (on the NHS) to be sure. All was fine. Good luck OP.

celticmissey · 08/10/2018 21:47

I had a 1 in 30 chance. We did not go with an amnio as it carried a risk of miscarriage and I'd suffered a miscarriage earlier. We decided that we wanted to carry on, had no other tests (did have a scan of the baby's heart) and my daughter was fine. I worked myself up so much throughout my pregnancy and was so stressed at the end.

bluesky45 · 08/10/2018 22:42

Just to touch on what @emmafh3 said above, that was the conversation we had in depth. The risk factor was high but would we do anything about it? For us, the answer was no, it would not change the outcome. This helped us to rule out amnio or CVS as they have miscarriage risks which we were not willing to take. We decided to go for the harmony (at a cost of £400!) just to either put our minds at rest if the result came back low risk, or allow us to come to terms with it, do our research and just enjoy the rest of the pregnancy and newborn days without wondering and uncertainty. That was a take on the situation we hadn't thought of but out midwife discussed and it rang so true for me as soon as she said it. For us, it was partly about bonding and planning for our future etc etc. In the grand scheme of things, we could afford £400 and it was quite a small amount compared to what babies and children cost in the long run! Also, just to note, there are lots of different nipt tests, the harmony is just one of them and it's one of the more well known ones but frim what I could find, they were all pretty similar. The harmony one was just the one that the clinic near us offered. I think I just googled nipt and my towns name and a few clinics came up.

LBNM19 · 08/10/2018 23:08

I'm sorry your going through this. The chances are that your baby doesn't have downs. I've had CVS testing 3 times as i carry a genetic condtion with a 1 in 4 chance of reoccurring, it isn't pleasant but not painful either. Harmony isn't an option for me but I would of gone for that if could. X

Original poster
Jaxtellerswife · 09/10/2018 10:04

In my head now I'm thinking if I was told the chance of miscarriage could potentially be avoided by paying 400 then I would do it in a heartbeat so by that logic I think we will end up going for the harmony test certainly initially.
The results of any tests wouldn't necessarily change things but I have two toddlers and a stepson teen so if there is anything to know I need to educate myself as well as them.
Thankyou for the replies, hearing others experiences has been invaluable with helping me clear my head a bit.
I wish everyone here all the possible best with everything

OP posts:
overagain · 09/10/2018 13:28

Just remember that the vast vast vast majority of miscarriages "caused" by amnio/ CVS are babies who were very sick e.g. the test comes back positive for one of the chromosomal abnormalities and it is impossible to say whether it was the test that caused the miscarriage or whether they would have died anyway as a result of their condition. The chances of miscarrying a child who does not go on to test as positive is much smaller.

Would knowing your child had one of the conditions change your course of action? For me it would have, but it's obviously a very personal view. I am also a planner and couldn't have gone through the rest of pregnancy with even a tiny amount of doubt. To be honest I am struggling with this pregnancy despite our results coming back really good.

Options are:

NIPT/ nifty/ harmony/ panorama test - usually privately though one or two NHS trusts are now offering this before amnio/ cvs. It is risk free and involves a scan and sample of the mothers blood. Results in 5 - 10 days. Not considered diagnostic in the UK (which is why you are given a 1 in chance rather than a yes/ no). Considered diagnostic in Australia.

Amniocentesis - invasive test, performed in hospital by NHS. Small chance of miscarriage (less than 1% for healthy babies, around 1% for those with abnormalities but also dependent on the person performing it). Results in 3 - 5 days. Available from 15 weeks gestation.

CVS - invasive test, performed in hospital by NHS. Small chance of miscarriage (less than 1% for healthy babies, around 2% for those with abnormalities but also dependent on the person performing it). The slightly higher chance of miscarriage is possibly due to the fact it can be performed earlier, when miscarriage is slightly more common anyway. Available from 11 - 13 weeks, dependent on your NHS trust. Diagnostic.

Have no test - you will likely be offered more scans to check for heart abnormalities which are more common in children with chromosomal abnormalities.

theDudesmummy · 09/10/2018 13:31

The risks of CVS are decreased if you go to Prof N at the Foetal Medicine Centre in London

Original poster
Jaxtellerswife · 09/10/2018 16:51

I've been for an appointment at the hospital and we are having the NIPT scan and blood test on Thursday. Should the results still be high risk it's likely we would have an amnio later on.
I know nothing more than yesterday but feel a bit more in control having decided something. Thankyou all so much Thanks

OP posts:
Yerroblemom1923 · 09/10/2018 16:55

I think the chance of miscarriage from an amnio is 1 in 100/200 so v slim.

numberseven · 09/10/2018 17:01

I hope your NIPT comes back quickly and with good results, Jaxtellerswife!

To the people saying why test if you won't terminate for DS: the tests also detect other trisomies, some of which are incompatible with life. And there's the issue with DS comorbidities. My relative with DS had a very complicated heart defect that was not visualized in the scans - that is something that's somewhat common with DS and also something that can be handled better if everyone is prepared.

Original poster
Jaxtellerswife · 09/10/2018 17:27

Exactly, I'm testing because I already have two small children and although I wouldn't plan to terminate I don't know much about any of these conditions so if there was a positive I would want to educate myself and my family. And prepare whatever might help in any way.
Thankyou, I'm just on autopilot now until we know more!

OP posts:
le42 · 09/10/2018 20:27

I was offered harmony for free (North London) as we were high risk, shocked it's not the case in other areas??

We opted for CVS so we would have a definitive yes/no rather than another likelihood result.

Wishing you the best of luck, it's so horrible all the waiting! :(

Original poster
Jaxtellerswife · 12/10/2018 07:38

I had the NIPT test yesterday so now it will be a wait for up to 10 working days. Her heart rate is great and she's looking good in the scan.
I kind of hate myself for how worried I am, I feel like I'm being mean to herSadit's definitely having an effect though, I'm in a trance most of the time getting things done but not really there.

OP posts:
MadeForThis · 12/10/2018 12:03

Good luck. Hope the time passes quickly

Treaclepie19 · 12/10/2018 15:59

@Jaxtellerswife I'm so sorry you're going through this.
We had our scan Tuesday and baby's NT measurement was 5.1 so at high risk. We've had the NIPT done and just waiting now. I feel exactly the same, like I'm detaching a bit and worrying and that feels horrible.
If you want to chat feel free to PM me. It's a lonely time.