Down risk 1 in 71 - would you have the invasive tests?

[MF1981]

Hi all

I'm 40 and 14 weeks pregnant with twins through IVF. We had the combined screening test on Wednesday last week and were called today to say our Downs risk is 1 in 71 or 1.4% for one of the babies. The NT measurement was 3 but the other baby was only 1.4 and measuring slightly smaller overall. At those odds and an increased risk of miscarriage because it's twins, would you have the invasive tests? Or have the NIPT test at £400? Or do nothing. It won't change the outcome of the pregnancy for us but I don't want to be worrying about it all the way through to the birth. We're going in to see the screening midwife tomorrow at 4.30pm to discuss the report and next steps. Something in me wasn't surprised - I was almost expecting the call. Maybe because I'm an older mum?

Would really appreciated hearing your thoughts and experiences on this please.

I would probably have NIPT as a first option but does it work in a twin pregnancy? How do they know whether they are testing the dna of the high or low risk twin?

Hi! I know this must be a stressful time for you and I hope you're ok. I had the same situation 8 years ago (although my risk was much higher i.e. 1 in 3). Since the result won't affect your decision around the pregnancy I would just do nothing (which is what we did). We prepared for one baby having Down Syndrome in the knowledge that we would just be a little more educated and nothing would be lost if they didn't. In the event one of our twins was born with Down Syndrome and we are all well and very happy - life is genuinely good for our child with Down Syndrome, our other children, and both parents. One thing I would say is that - if you do take this route - just prepare for a baby with Down Syndrome (i.e. not a teenager, adult etc). I learned very early on that it is stressful (and counterproductive) to look too far into the future. Also, 1 in 74 is not that high a risk. If you were one of 74 people being interviewed for a job you'd probably feel the odds were against you. Either way though, my experience is that life with a child with the DS in the family has been very happy and rewarding, and that once the initial shock had passed pregnancy was fine too - even not knowing what the outcome would be. Whatever you decide I wish you and your babies health and happiness.

@Serafinaaa - good point, I guess we'll find out tomorrow when we meet the screening midwife but we have been offered it so I assume it's possible?

@bibblegenie thank you so much for sharing your story. I'm so glad to hear that you're all doing well and are happy.

Wishing you well for tomorrow. If I can be helpful at any point please feel free to contact me.

@MF1981 sorry you’re going through this. Bottom line is it has to be whatever feels right for you; weighing up what you feel is more tolerable in terms of knowing or not.

I would add that there is quite a lot of research which suggests risks associated with invasive testing are significantly overstated. That may or may not impact...

obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.20353

My odds were lower at 1 in 148 (so ‘half the chance’ of you) and I opted to have no further screening, if I had been less than 1 in 100 I would have done NIPT first.
One important factor for us was that nothing ever seemed structurally wrong with the baby so it seemed that if she DID have ds it would be physically mild. In terms of it having a severe effect mentally ... there’s any number of conditions that could severely mentally impair your child but you aren’t aware of them before birth. (This is just an example of how we worked through the risk)

@MF1981 the NIPT won't give a result for each twin. You need the panorama test for that. Google panorama test Uk. They can post the blood test out to you or you can attend one of their clinics in London or Cheshire. I only know as we had this booked for our twins, sadly we lost one.

Good luck- the odds are in your favour and remember the are based on age, IVF status and the fact it is a twin pregnancy!

The panorama test is just a brand name for the NIPT - I did it for my twins - you get a result for each twin but I would guess that if somethings came back worrying in the results you'd still
Need to do a amnio as unless you are having boy/girl twins you wouldn't know which twin it relayed to?

@ivfbeenbusy actually, I was told this wasn't the case and that you would get an individual result for each twin. Perhaps you are right though- how can they tell which twin it applies to? Did they give you a result per twin or overall? Although they can tell the specific gender of each twin so must be something to do with this. Something definitely for the OP to research further, although I found my midwife to be lacking in this knowledge. I'm not knowledgeable enough about the ins and outs of each test to be able to advise any further than what we had planned I also found the panorama test UK helpline useless, but contacting a north clinic that offers the test was very helpful.

@Springb0ks you do get a result for each twin but it basically says Twin 1 (then gender) and Twin 2 (then gender) - it's a blood test rather than ultrasound so there is no way of knowing which is 1 and which is 2 if you are having boy/boy or girl/girl twins? If you are having boy/girl then obviously you'll know which result applies to which when If you have a gender scan

I had an amino in two of my pregnancies. One a 1 in 80 chance of Down Syndrome and one a high risk of Edwards Syndrome.

I would have terminated both pregnancies if the results were positive but even if you are sure you wouldn’t terminate, it is useful and potentially life-saving information to have. For instance, usually a paediatric cardiologist will be on hand for the birth of a baby who is known to have Down Syndrome.

I would probably go for a NIPT first. All NIPT works for twins, Vanadis, Harmony, Panorama, they are just different brand names for NIPT. The test accuracy will be a bit less for twins than if it was just one baby, but the accuracy of NIPT is quite high so even if you loose a bit of the accuracy, it is still a test with quite high accuracy.

Thank you so much for everyone’s replies. If I have the NIPT will the odds ever get worse ie drop to 1 in 10 or will it only ever get better ie 1 in 1000?

@MF1981

The NIPT is still just a screen and not 100% but often is correct. I don’t know specific numbers on twins. The amnio is diagnostic and will give you a true answer. I just completed mine and was happy to do so so I can prepare for baby one way or another.

My risk was 1:4 with low PAPPA and high BHCG. Baby does not have T21, T18 or T13.

I don’t know the answer to your above question, but the test does isolate the baby chromosomes so you will either get 1/10000 aka not likely or a positive screen indicating there is likely an issue where you’ll want to do further testing.

Good luck, I know how scary and emotional this is. 💕

@MF1981 as @JaiPow said, a negative NIPT is statistically likely to be accurate and reassuring.

Bear in mind that as you are higher risk for Downs, the likelihood of an NIPT positive result will be around 90% accurate (positive predictive value/PPV).

Nonetheless it is a misconception that the NIPT holds equivocal accuracy in terms of Edwards or Patau’s. A positive result for these trisomies is only around 37% and 49% accurate across the general population - so unfortunately the NIPT can throw up a lot of unnecessary anxiety should you be unfortunate enough to have a positive “high risk” result.

Good luck with everything xx

Thank you so much everyone. We are going to go ahead with the NIPT next week - fingers crossed it comes back ok, but if it doesn't then we'll deal with it and we'll be prepared. We also have been offered to have a twin specialist consultant perform our 20 week scan to check for any soft markers so I feel well looked after.

Personally no because I wouldn't abort for Downs but that is a personal decision that only you can make. I have 2 friends with downs kids and one with a young adult, thus I admit colours my attitude

@MF1981

Thank you so much everyone. We are going to go ahead with the NIPT next week - fingers crossed it comes back ok, but if it doesn't then we'll deal with it and we'll be prepared. We also have been offered to have a twin specialist consultant perform our 20 week scan to check for any soft markers so I feel well looked after.

Just to reassure you, I am 41 and came back with a risk of 1:51 for Down's syndrome. I had the NIPT test done about 10 days ago and got my result back yesterday and received a "very low risk" think she said 1/25000.

Unfortunately the combined tests aren't as accurate and I was told by midwife when she called that on my age alone I would be high risk anyway, the NIPT test takes the fetal DNA so is highly accurate unlike the combined test which is a computer generated figure.

Hope this gives you a little comfort.

Thank you @Missreginafalange that is comforting to hear.

@minniemomo as I said, it won’t change the outcome of the pregnancy for us either hence why we’ve declined the invasive tests and opted for the NIPT just so we can be prepared either way.

Good luck with the NIPT @MF1981

My initial test came back as 1 in 17 chance of Downs Syndrome. I had the NIPT and it came back as 1 in 50,000 chance.
DD is now 18 months and very healthy.

Thank you @Bluebell9

Hi can see this post is a few months old. But I am 13 weeks 5 days pregnant with a much wanted baby and my results have come back as 1 in 71 chance of down... I'm having the CVS test next week... but feel so scared and lonely.. my partner and friends keep telling me there is only 1.4% chance of DS but it still feels like a lot...