Hold my hand - been told I'm high risk for Down's syndrome

[PenguinsDontEatPancakes]

Got told today that my combined NT and bloods have come back as 1/100 for the risk of Down's syndrome. I honestly don't know what we would do if it was confirmed (this is DC3 and not had to confront this before), but I know that I can't spend the next six months tying myself in knots about it and so I'm going in for an amnio at the end of the week.

Please could some nice people on here hold my hand? It sounds trivial, but I also really want someone to reassure me about the procedure itself. I am a really nervous patient and already feel scared!

Phew. So happy for you.

I had amino at 17/40 weeks after being told I had a 1/53 chance of my baby being Down syndrome.
It took ages because he wouldn't move but wasn't awful - I felt a bit delicate for a few days after.
My DH and I did not agree on what we would do if the test had come back as positive for Down syndrome. I said I would keep baby regardless, unless it showed a deformity that would be massively life limiting like Edwards or Pataus. He wanted me to terminate of anything showed up.....
Anyway, it was all fine and it also meant we knew 100% it was a boy.
Hope everything goes well for you xxxx

Oh, and my friend's tt came back as 1/23 and her little girl was fine too. X

Great penguins, very pleased for you. Hope the rest of your pregnancy is much less stressful for you both now. Very best to you.

Great news. I hope you thoroughly enjoy the rest of your pregnancy.

Mine was 1/20 with DD3 (age 41 when delivered) - she was fine and healthy too.

Was just reading these posts. I received a call from my midwife yesterday saying my screening has come back at 1:18 which means I’m High risk and being advised to take a nipt test as the cvs is not an option as I’m 13 weeks 4 days and they can not get me in till jan . I know I can have the amino at 15 weeks but again no app till jan and I will be nearer 16.5 weeks so over 17 before any results.
I’m 41 but will be 42 on del and this pregnancy was such a shock to say the least. I’m still having periods to this day.
I had my 12 week scan at 12 weeks 6 days and was told all looked fine and the baby growing well. They took a measurement this day of the crown to lump and the fluid on the baby’s neck and did my bloods .
But rescanned me the following day as there was no pictures available . All they checked this day was the length of the baby, again was told all looked well but the length of the baby had gone up over night by 2.5mm .
I’m now concerned that they may have got one of the two measurements wrong as they said even a change of 0.5 min in length can change the prediction of the scoreing.
However they are unwilling to redo the test and Sao I have to wait till 15 weeks for the amino or pay for the nipt.
I’ve been given no advice on which is the better or what each entail. So have resulted to google for places which offer the testing and for information on what is possible happening or likely to happen with the rest.
Has anyone else had low odds and all being ok ?
Also has any one any information for f either of the testing and which would be my better option .
I’m worried about the miscarriage risk as I’ve suffered from a miscarriage in my past and really don’t wish to add to the chance of these but not sure if being bang in 14 weeks when I can have the nipt test is a good option or not .
I’m so worried and can not sleep which isn’t helping .
Also if I’m then faces with the possibility of a termination what are my options at 17 weeks .

If you want a definite answer you’ll need to wait and have an amnio or cvs, the NIPT is not a diagnostic test.
I have not been in your position but I do have a child with Down syndrome, if you have any questions I’d be happy to answer if I can x

@Nicola3679 this is such a difficult decision. What LBB2020 says about NIPT is right in that just like the nuchal transparency test it is still a screening and not a diagnostic test. Neither test will tell you with absolute certainty whether your baby has a chromosome issue. BUT NIPT is more accurate than the nuchal transparency test you've already had (I believe 99% vs 90%). If you did NIPT and that came back high risk you would still have the option of amnio (albeit possible adding in delay). If it came back low risk you can move on with no invasive testing (but out of pocket!) I found this blog article helpful. It is actually critical of NIPT but helped me understand the limitations and after reading it we decided we would still go that route, but with our eyes open.
www.nuffieldbioethics.org/blog/nipt-private

And do remember 1 in 18 is still not awful odds - 94% likely everything is fine.

LB2020 thanks for your reply. I is e done some more reading on the tests and it even says the cvs isn’t always accurate as much as the amino.
I’m just worried about running the miscarriage and having to wait till jan for a possible test. The nipt sounds ok but yes your right doesn’t give a definite answer .
I feel so blessed to be pregnant but with having other young children at home and a very demanding job that I would cope if this was to be the case .
I’m just so worried and concerned about how the dynamic would work and about putting myself through the tests too.
I’m shocked to have been left with no advice and incorrect numbers from my midwifes that I’m having to look and arrange this myself . Despite easing my concerns . I really do appreciate the reply

Mimba21 thanks I will take a look at the link. I have tried several time the midwifes and screening centre they gave me the numbers for a date for the amino but no reply . I know they are busy and this is a difficult time for many but I need to know dates in order to plan . Yes your right it is not 100% and if I’m still high risk I will need to book the amino so was trying to book this in to avoid delays .
Hopefully they will return my calls and I can book in but for some more advice and info I feel I don’t really have anything to lose doing the nipt .
I hope all is well your end

I understand your concerns, I too have a full on demanding job and also a new baby! My son (who has DS) is fantastic with the baby, he has his moments but is generally a lovely little boy who is meeting all of his milestones (albeit slightly slower than other children the same age) and is touch wood very healthy.
The Down Syndrome Association and Positive About Down Syndrome have lots of up to date information which you may find useful. x

@Nicola3679, I’m so sorry you have to go through this. I recommend NIPT at the fetal medicine centre on Harley street, if nipt comes back with issues they will do diagnostic test without additional charge. I have heard people who were given chance of 1:5 from NHS getting low risk from NIPT and didn’t need to do cvs or amino. Fingers crossed for you

Thanks LB2020 I will look them up and Meomeomeo I’m booked in with the one who has the first availability next week in Leeds . London is about 6 hours plus from me . But I will see what they say about the diagnostic tests done if I come bk as high

Thanks guys for all the support and info. I’ve had the NIPT and it came back and 1 in low risk for T21 1:102189606
T18 1 in 1629016862
T13 1:9280342314

So been advised amino is not needed as due to low risk result and with the figures we should be fine. However was told that if it was high risk we would have needed amino as there is a bigger chance of false positive.

So based on the results we think we’re going to proceed without the amino, or am I wrong ? Advice would be great . We’ve talked and talked and if we had these results on the original nt scan/ bloods at 12 weeks we would have been happy.

I hope everyone else the best of luck what ever your decisions xxx