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Pregnancy with possible downs syndrome

13 replies

ShayCB · 29/05/2020 10:41

Hello. I recently have had my booking scan and bloods back and turns out my little one has a 1 in 53 chance of having downs syndrome. I have no idea what to say or think my mind is completely fried with emotion. My b-HCG were high and my PAPP-a was low and NT was within normal range. I have been given the chance to have a amniocentesis test which will be happening next week. We have decided to have it done so we can be as prepared as possible.

I was just wondering has anyone had these results or similar and baby be complete fine with no downs? I'm so worried about our little peanut 🥺 TIA

OP posts:
MariaDingbat · 29/05/2020 11:13

The Harmony test could be a non invasive option? They give you a high or low risk based on the baby's DNA in your blood. It would give you a better idea if amnio is necessary, but it costs about £400 unfortunately.

Elouera · 29/05/2020 11:17

Sorry you are going through this. I had the NIPT (harmony) and our results showed trisomy 13. I know if can be confusing and difficult. How far along are you? A CVS is normally done earlier on, but amino not till after 15 weeks. You might find some info on the arc website, but happy to answers any questions you have too.

LBB2020 · 29/05/2020 11:20

Congratulations! I don’t have experience of this but I do have a child with Down syndrome, if you have any questions I’d be happy to answer if I can. I know it’s easier said than done but try not to worry. We had a postnatal diagnosis (we declined the screening tests), our little one has no medical conditions associated with DS, he is a little behind developmentally but is hitting milestones at his own pace. Wishing you a healthy pregnancy x

ShayCB · 29/05/2020 12:15

@Elouera I'm 14 +3 at the moment I'll be just over 15 weeks when I go for the test. It's booked in for Thursday next week x

OP posts:
Elouera · 29/05/2020 12:53

I see. I was offered the CVS, but I was only 11 weeks when I had the NIPT. Best of luck with everything Flowers

SoloMummy · 29/05/2020 12:55

If you don't want to risk miscarriage, I'd pay for the Nipt or harmony test.
I did this when like you I had low pappa and high bhcg.
Plus I was late 30s but that apparently didn't impac the results.

Please also bear in mind that 70%of the NHS high results are false. I didn't wish to risk a mc for that.

Good luck

Tan200 · 29/05/2020 13:30

Hi in 14+2 weeks and from my bloods I have a 1in 33 of having baby with downs. Had harmony test done on Wednesday just waiting, so worried that's all I can think of.

EveningReflection · 29/05/2020 13:39

It baffles me why the combined test is still being done when it's known to be very inaccurate. I believe it largely comes down to cost for the NHS. As others have mentioned, the NIPT test is much more accurate (around 99%) as it looks at the babies actual DNA. Its just a blood test, nothing invasive. Im having the SAFE test version done by a local midwife for £345. Its the most accurate one and its processed in a UK lab, rather than sent to another country. Its definitely an option you could look into. There is a version of NIPT thats around £250 and only tests for downs syndrome. I suggest googling for local midwives who offer NIPT.

MrsLully · 29/05/2020 14:07

Hi! I had similar a similar result when I was pregnant with DD. I first booked a Harmony test (which is non invasive so no risk of MC) but after doing some research I decided to go for an amniocentesis.
A Harmony test is not a diagnostic test, is just another statistics based test in which they look at certain markers in your baby's blood to try and predict problems. So, even when this test is way more accurate than the one offered by the NHS, it will still not give you a 100 per cent answer AND it is very expensive.
To me, the not knowing was too much, as I am a planner (complete control freak would be more accurate), so I couldn't just take that chance. That being said, I cried everyday until I got the amnio done. The waiting without knowing was the absolute worse, I wouldn't wish it on my worse enemy. The amnio itself was completely painless and I didn't experience any side effects at all. The test came back clear by the way.
I hope reading this helps you, I know how nerve-racking it can be, regardless of what choice you'd make in the end or how you'd feel with either outcome. Feel free to PM.
Good luck, OP! Flowers

Frazzlerock · 29/05/2020 14:48

The Harmony/NIPT test is 99% accurate so I would definitely go for that over an amnio.
We had the Harmony before our nuchal this time around as I'm an older mum and we wanted a far more accurate results than the NHS nuchal test.

Please try and go for the Harmony if you can financially stretch to it.
Wishing you the best of luck.

Liveforholidays · 29/05/2020 15:16

It sounds like you've had a chat with the midwife/sonographer and discussed your options. The NIPT test is, as other posters said, highly accurate. I had a1 in 13 chance of Down syndrome before Christmas. My age, plus low papp a and high hcg led to such a high chance. After discussing my options I opted to pay for NIPT. This is because all looked good on the scan. We decided that if that came back as high chance we'd have amnio. Chances are your amnio will come back clear. Let us know how you get on.

Liveforholidays · 29/05/2020 15:32

I will add that at the time I was happy to have a 99+% chance that all was fine with the NIPT result (because I didn't want to risk MC) but it hasn't been an easy pregnancy not knowing for certain. Part of me wishes I'd had the amnio for 100% certainty that all was OK, especially as my chance was so high to start with. I'm 39 weeks now (so close! ) and all scans (I've had the usual 12 and 20 week + 3 growth scans because of the low papp a) have been fine. It's a very scary time and waiting is just the worst. At least with the amnio you get the results back very quickly so will know before long.

ShayCB · 29/05/2020 16:44

Thank you all for you advice I really appreciate it. I will update as soon as I find out ❤️

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