1 in 38 Edwards and Patau’s Screening Result … HELP

[SJG1987]

I’m 13+6 and received a worrying combined screening result (1 in 38 chance for Edwards and Patau’s). I’ve been offered a CVS (100% definitive answer but 0.5% chance of miscarriage) or an NIPT (97% accurate for Edwards, 94% accurate for Patau’s).

Has anyone been in a similar situation and what did you decide?

I had NIPT done privately at ten weeks. Results back in a few days. It's was £359. Depending on how long you need to wait for nhs testing, this could be an option xx

They’ve offered me the NIPT tomorrow or CVS. I just don’t know which one i should have?

NIPT is a blood test so easily done and of no risk to the baby

I'm sorry you are going through this OP. I paid for the NIPT at 10 weeks, which showed patau syndrome. This was even before I'd had the combined test done. CVS is diagnostic, but NIPT isn't generally considered to be as accurate. In my case though- the NIPT was indeed correct on the diagnosis. Was there anything obvious on the scan?

I would speak to the medical team tomorrow to discuss the positives and negatives of each option.

I'm happy to answer any questions you have OP, or PM me if you prefer ❤

I’m sorry you’re in this worrying situation OP. I think it is quite a personal decision - what is your gut telling you? Do you feel you need 100% certainty (as with the CVS) or would you feel reassured by the NIPT alone? You could always go for the NIPT tomorrow as no risk to the baby. You can always opt for a CVS or amino later on if necessary x

Thank you so much for replying. I’m so sorry that it was correct for you.

There was nothing obvious on the scan at all and baby was really active and they said it measured well. I was so shocked when I got the call.

I’m worried about miscarriage, but also I fear that the NIPT will be wrong? But then I guess the 20 week scan would show up growth abnormalities?

My gut is changing daily - which is so unusual for me as I’m very decisive. I want 100% certainty, but I am super worried about miscarriage.

I know, but it doesn’t offer 100% certainty.

Can you go for NIPT tomorrow and then ask for an in depth scan around 16 weeks?

I did something similar because I didn't want to risk miscarriage.

They said I can’t have an earlier scan, but I guess I could pay for a private one. That’s a good idea - thank you for suggesting it.

I had the exact same odds as you. Cried daily for the two weeks of waiting (NPT test, this was 8 years ago). Oh t was negative and baby was born with no issues. Horrible to hear those odds when you expect them to be so different and i too was very surprised to get that call. Handhold and positive thoughts for you.

I had a high risk result for DS with one of my twins, similar level to yours. Consultant advised nipt and if that came back high risk, to go for the cvs. She did a detailed anatomy scan first and based her recommendations on that, as she could see no physical signs of DS (such as absent nasal bridge).

It depends how long you are willing to wait. If you want an answer asap, go for the cvs.

Is the NIPT and CVS both being offered on the NHS? If so, personally, I'd have the NIPT and as another poster said- IF you then choose to, can have the amnio or CVS afterwards.

For context, when my NIPT results showed patau- the clinic had booked me in for a more detailed scan the following day. I was 11 weeks at that stage. The NT was 6.5mm and the scan showed a cleft face (not just a cleft lip), shadowing in the brain, a large umbilical hernia and more.

The fact they said baby measured well is very reassuring. What was NT? Remember that a higher risk number might be just your age (depending what that is?). Also, in your case, there are 38x more chances that things are perfectly fine.

Yes both on the NHS. I can’t remember measurement, but she said it was fine. It was a trainee sonographer with someone watching her and I felt she was very thorough. I’m 35. I’ve now had 4 scans … one at 5 weeks, one at 6, one at 8 and one at 13 - all because of bleeding complications.

Thank you for sharing your story, it gives me hope. I think the shock is just awful. I don’t know, I did the test and didn’t even give it a second thought!

PS @SJG1987 my baby is also fine and healthy. I was convinced he would have DS, but as someone said to me at the time, 1 in 35 chance of DS, is a 34 in 35 chance its not.

Thank you for sharing. The scan was very thorough and there were no obvious issues, so your consultants advice is good to hear.

My DC was born healthy btw op. I cried and barely left the house for a week whilst we were waiting.

My 5 year old keep talking to my tummy, so I’m finding it very very hard. Every time someone asks me how I am feeling (just because I’m pregnant), I just want to cry. It’s such a worrying and emotional time. Oh to be one of those glowing pregnant women!

Hi OP, first of all , those screening results are not at all accurate - they take three very blunt measures and assess risk based on population data. your babies NT was fine (and no other worrying findings on scans) so your result will be based simply on your hormone levels and your age , which say nothing about whether your baby actually has Edwards- they are just population level associations / risk factors if that makes sense. Personally I would go for the NIPT. They actually look at your baby’s DNA, are highly accurate, and should hopefully put your mind at rest if you get a really low risk result (which you almost certainly will). In the unlikely scenario that the NIPT comes back high risk you can always opt for the amino at that stage xx

I would also go for the NIPT. It wasn’t available to us, so I did have cvs when we were told Edwards/Patau was likely. But I’d have gone for NIPT and then an early scan if I could have.

I was in the same position with a 1:98 chance and talked it through with an incredibly statistically-minded colleague. We came to the conclusion that they are both good options, so think about how the pros and cons play out for you and choose one, knowing you made a very reasonable decision.

I had never miscarried and I feel skeptical about the odds they give due to correlation/causation issues, so that particular risk never really played into my decision.

From there it was a matter of thinking about the timing. NIPT isn't diagnostic, so if you get confirmation of an issue on NIPT, you move on to CVS before terminating (if that is what you would do with Edwards or Petau's). I chose CVS because I wanted to cut out a step. I had an anterior placenta and am thin so was told it was the easiest and least painful CVS setup. I was unbelievably ill in the pregnancy and the baby did have Edwards and was not going to make it even to birth, so it was the right choice for me because it meant termination more quickly. It is not all bad news - I was so sorry to lose that little one but am now pregnant again and 25 weeks.

If you live in/near London I can give you the contact of a private foetal medicine specialist who can scan you and see if the baby appears to have a problem. Also, do you know that Mumsnet has an antinatal testing board where there are many people in your situation? I found it a great comfort, and also very informative. Additionally, there is a charity called ARC (Antinatal Results Choices, I think?) that specialises in this - they also have a helpline and can talk you through the decision.

Sending you all my best wishes for a healthy baby. It can be a really, really hard time.

Do you mind me asking what your probability was and the outcome?

I’m sorry to hear about your loss the first time. Where do I find that board?

Congratulations on your pregnancy. You must be so excited. Did you have the combined screening or NIPT this time?

My risk was 1:93, so not particularly high, and baby had Edwards.with a number of accompanying growth and development issues. I terminated the pregnancy, which was frankly really difficult, but the right decision for me. This was at 18 weeks, though the baby's development was only 16 weeks. With the NHS, before you have CVS, you get a foetal anomolies scan where a foetal abnormalities specialist is very seriously searching for issues. From that scan it should have been apparent to me (my partner and I are not British and it was communicated in a super British way, so we did not realise this) that the baby was not going to be ok. Specifically, they found that some of the baby's toes were fused together and the baby had potential kidney issues.

If you have your actual HCG and Papp-A measurements, I think that they tell you a little more about your likely outcome than the odds that the NHS give. Mine were:

HCG: .3
Papp-A: I remember .13, my husband remembers .07, in any event, very bad.

When I read the posts where people had particularly low Papp-A scores like mine (kind of below .2, as a rough marker), the outcomes started to be reliably pretty poor. I tried to find any underlying research papers but was not very successful with the scientific literature as Papp-A is a pretty new thing to test for.

If you really want to get a clear-eyed sense of how your results could look, look specifically for Edwards and Patau's threads on the antinatal testing board (www.mumsnet.com/talk/antenatal_tests_choices). The down syndrome testing behaves a bit different statistically from E&P, so are not actually hugely useful in guagijg your likely outcomes.

In this pregnancy I had NIPT and a scan by a foetal abnormalities specialist in a private clinic (London Pregnancy Clinic, near Liverpool Street). If you use them, ask for the DR FRED USHAKOV. He doesn't have an amazing bedside manner but foetal abnormalities are clearly his passion and skill area. I personally needed to know ASAP whether this pregnancy was healthy and you can gets results much quicker (11 weeks) than with the NHS. I think I chose to skip the combined screening this time because the clinic sent my results to the hospital and they recognised them as more accurate than combined screening. I had a realistic conversation with the clinical and agreed that there was no additional value from doing it after doing NIPT. They also offered CVS, but again it was an offer based on compassion not good medical reasoning so we discussed with the clinician and decided against.

Super happy to answer any further questions, if you find it helpful. I recognise I see the world much more statistically and less emotionally than most people, which is fine but different and occasionally one does not help the other.