hi all,
I’ve just had a worrying call from the hospital following 12 week screening results. We have 1:50 chance for Down syndrome. I am 40. NT was 1.9. HCG was normal. The main abnormality was my HEPP-A was low at 0.3.
We’ve been given the options of a CVS now or Amnio at 15 weeks.
I don’t know which one to go for. Anyone had experiences of either of these? Thank you 🙏🏻
hi lovely we had high risk for downs about 7 weeks ago and had the NIPT blood test which tests the placenta DNA that’s in our blood for the conditions is this the CVC option? The NIPT back as low risk for all 3 thankfully and results took about a week. This is of course not conclusive but very very accurate and non invasive. Without going for the blood test there is no way I would do amino which has a risk of misscariage just based on the algorithm alone and I dont even think the Nhs where I am would allow that! Age and high HCG were the 2 factors that pushed my algorithm up the NT was normal just like yours xx
Thanks for your response, glad everything came back normal on your NIPT.
Unfortunately the NIPT isn’t an option for us as it’s a twin pregnancy but we lost one at 7 weeks. The NIPT may detect abnormalities in the DNA in the miscarriaged twin. So CVS or amnio seem to be the only options to us, the midwife said the risk to the baby is 1% or 1 in every 200 procedures ends in miscarriage.
I am wary as I’ve read there is a strong correlation between low PAPP A and IVF pregnancies, and that appears to be the only anomaly.
Thanks again
Ah I see sorry to hear that, I would have thought they would still do the NIPT with twins though so I would probably enquire a little more about that just to be sure. A quick google there shows nhs study in 2021 saying NIPT is accurate for twin pregnancies too!
I guess as it’s the downs it might depend on what you would do if the baby did have Down syndrome. If you would carry on with the pregnancy anyways I don’t think I would have got the amnio but the other 2 conditions I think I would have as very severe trisomy’s for life quality etc. it’s a really personal choice. If you potentially wouldn’t carry on pregnancy then you would defo want to know sooner rather than later but with that NT result I would be vary too as I couldn’t believe how much just my age (42) contributed to my high risk factor the calculation! I was totally terrified when I got the call btw, even though it’s just a calculation and odds it still had my brain in a spin! so I really feel for you and thinking of you right now xx
I will do some more digging, it does seem the NIPT is not recommended for vanishing twin. I might look into getting a private one, if it comes back with something scary then I would need an amnio anyway, but if it comes back low risk then I guess no further action 🤷🏼♀️
Yeah that’s exactly the situation I had as it was low risk after NIPT no further action but yeah that’s what I was thinking of it’s a postive you would t know which one had the abnormality and would need next step but if low risk then wouldn’t that mean neither DNA showed it? Maybe not but seems worth looking into a wee bit more in case it saves you a procedure. Have the invited you in to talk to you at the hospital? I found them really helpful when I went in for the blood test they answered and encouraged so many questions made me feel loads better! Xx
I rang a private clinic this morning and they confirmed they wouldn’t do the NIPT in the a ‘vanishing twin’ case.
The midwife I spoke to yesterday was wonderful, we talked for about 30 mins and she clearly explained everything, I took notes, asked questions etc.
I’m just frustrated and worried about it all, it seems like one thing after the next with this pregnancy. I was hospitalised multiple times with OHSS at around 6-8 weeks, then we lost one of the babies, then the sac looked too small at another scan. I’m also on blood thinner injections which are painful. I’ve had enough of the roller coaster now!!!
Sorry the moan, need a good vent 😂
Aww lovely that is a rough ride so far 😢 I know what you mean I couldn’t believe it after finally getting to 12 week scan and all Looking good that phone call really threw me! Are you thinking CVS now or wait a little longer for amnio? Ps vent away!!! Xx
Ah thanks for your understanding. It’s quite a ride isn’t it!!!
I’m still not 100% sure, but probably amino at 15 weeks as I think the CVS doesn’t always go ahead as planned. For example, if they can’t get to the placenta and sometimes can’t detect cells in the sample etc.
I’d rather not do either, but I’m not sure we have much choice 😔
Hello,
I’m sorry to hear you are going through this.
I wanted to let you know that I have just had a NIPT with a vanishing twin. They told me there’s some conditions they can’t test for but they can test for Down’s syndrome and two others.
My report says:
Trisomy 21, trisomy 18 and trisomy 13
They commit to about 99% accuracy even with the vanishing twin.
So I don’t know if you can get a second opinion?
Sending lots of positive thoughts your way xxxx
This is interesting, thank you for sharing and must have been such a relief to get a negative result. I’m sorry to hear you lost one 😔 do you know how many weeks ago this was? I’m not sure if this plays a factor. Was this also through the NHS? I have contacted a couple of private clinics who have also said no so far. I would like to avoid the Amnio unless it’s our only option. Thank you again
I will DM you xxx
Post 45 natural birth or c-section
We've reached 24 weeks! Movements -or lack of - driving me a bit nuts 😄
