High Risk Combined Screening, awaiting NIPT Results

[7amCoffeeClub]

I’ve recently received my combined screening result as higher risk for Downs Syndrome (1 in 134).

I am 35, normal BMI, non-smoker. My PAAP-A has been flagged as slightly low (0.44) the midwife said they like it to be 0.5, but she said all measurements at the scan looked perfect.

I’ve had a further blood test for an NIPT and have been advised I will either get a high/low risk result back from this (and not a figure like what I’ve had for the combined test).

I know that if the NIPT comes back with a high risk result, then I will want a CVS or Amniocentesis for confirmation.

However, I am worried that even if my results come back with a low risk, a seed of doubt has already been put in my mind from the combined test.

For those who have been in my situation, have you been reassured/satisfied with the outcome of your NIPT? Or did anyone with a low risk result from NIPT go on to have an invasive test (CVS or Amniocentesis) to confirm (I’ve been told that both are still available to me, should I want them, regardless of the NIPT results).

I think I would feel better if I had a likelihood/probability number to give some context around the result and not just high/low.

I’m really struggling with the shock of this all, and just hoping to hear how others in a similar position have got on.

I’m currently in the same situation, although have been told I can only have invasive testing if the NIPT is high risk or inconclusive. I am 1 in 38 risk for Edwards and Patau’s with a 0.2 PAPP-A and 0.25 HCG. It’s tough, I know I won’t feel reassured until I have a baby in my arms.

Based on what you’ve described, the NIPT sounds like an appropriate test. I imagine the main reason for your higher risk score will be because you are 35 which will increase the risk in the screening significantly- where as the NIPT will be based on blood work and is quite accurate in detection of Downs Syndrome.

If the ultrasound findings are healthy and you have a low risk NIPT, then this should be strong evidence baby is healthy.

Big hugs to you. Such a difficult experience to go through x

I have received the exact same news yesterday and every single thing you have said is what I am thinking :( if it comes back low will I still worry? As it’s been planted in my head now it’s such a worrying time and very Confusing as everything you read on line is conflicting too! Fingers crossed the results come back soon and then we will be able to decide further. I have read the CVS and Amniocentesis are 100% accurate so it’s in the back of my mind anyway to get this but then the risk of miscarriage is freaking me out.

So I did a NIPT test privately and got the results before my 12 week scan.

At my scan, I was flagged as being medium risk for down’s so the hospital arranged a NIPT test. However, I wasn’t worried as I already had the results and I suspect a big part of that was my age (also 35).

The test is reliable and I wouldn’t necessarily question it, but at the end of the day, it’s about what you feel and what you need to do feel reassured.

Will they offer you the test if the NIPT comes back negative? My hospital said they wouldn’t.

My hospital said they wouldn’t offer the test if NIPT comes back low but I’m not sure if you can request this still anyway.

I was 1 in 24 for downs and had a low risk nipt and was satisfied for a while, I didn't want an amino.

I did pay for an early private anomaly scan though as I was worried something was wrong - baby is fine!

I'm so sorry that you are also going through this wait @SJG1987. Do you know when you will get your NIPT results back? I should hear tomorrow or Tuesday.

I am trying so hard to be positive, but it is very difficult feeling like you are stuck in limbo waiting for the phone call.

I am keeping my fingers crossed for positive news for both of us this week.

Thank you @SarahD19. I am hoping the combined result is because of my age and the low PAAP-A.

I've done a lot of reading and research since I've had my NIPT test and I do feel more assured that it does seem to be quite accurate in detecting Downs Syndrome, so I do feel a little better about this test.

I think if this comes back with a low risk/probability, then I will book for a private scan, to thoroughly check for any soft markers. They seemed happy with my scan at the time, but I didn't know about my combined test results at the time, so I wasn't able to ask any questions that I would maybe like to ask now.

Thank you for your message x

Aww @RubyMae1804, I'm so sorry that you are also in the same situation.

How are you feeling? When do you get your results back?

I know, it is such a worrying time. The risk of miscarriage from Amnio/CVS is freaking me out too. Last week I was seriously considering just going ahead with it, because the 1 in 200 risk was better odds than the 1 in 134 risk from my combined test, but then I have done a lot of reading over the weekend, and I do feel that for Downs Syndrome, the NIPT seems to be fairly accurate. I feel slightly more comfortable with this now. Although like one of the other posters have said, I don't think I will feel 100% happy until I have a healthy baby in my arms.

Sending hugs to you and keeping my fingers crossed that we both get positive news this week x

@Itonlytakesaminute, thank you for sharing. I am so happy for you that baby is fine. It's such a worrying time having to go through this and wait for the results.

If my results come back as low risk NIPT I think I am also going to pay for a private scan to have a thorough look at baby x

We got our results on Friday - they came back as low risk. I’m so happy and relieved, although I still feel anxious of course. I’ve booked a private scan to try and help ease some worry. Fingers crossed for your results tomorrow. What day did you have the NIPT?

Aw that is great news @SJG1987, I am over the moon for you, and so pleased that you received your results before the weekend! I can totally understand that you still feel anxious, but hopefully your scan will ease your anxiety and worries and you can relax into your pregnancy. I hope you don't have to wait too long until your private scan.

I am really hoping my results come back today - I was able to keep myself busy over the weekend because I knew I would not receive any news until today at the earliest, but now that I am expecting the call, my tummy is in knots.

I had the blood test last Tuesday. Where we are, they can only take bloods for the NIPT on a Monday & Tuesday, they are couriered to the lab on a Wednesday, processed on Thursday/Friday and then the results are usually available the following Monday/Tuesday. Hoping because last Monday was a public holiday (They couldn't do my bloods on the Monday because of this), they will not have as many to process and I'll get my results today. I almost feel like life is on pause until we get these results back, if you know what I mean?

I'll update here once I have the results x

@7amCoffeeClub I feel ok thanks I’ve been trying to keep as busy as I can to keep my mind off it. I’m not sure what day I will get my results as I only got the bloods taken Wednesday for the NIPT nurse said they will be sent off and arrive Thu then they don’t count the weekend so hopefully will be sometime this week now!
i have spoken to loads of people now and some Of my friends who all said the NIPT is petty accurate for Downs so if I get a low (which I’m praying for) I will get my 20 week scan then and this Is the anomaly one says Anomalies are good when you are 18-20 weeks.
When will you get your results?

Crossing everything you get your results soon. I’ve booked a well-being scan for Monday when I turn 16 weeks

Got my results yesterday and it has came back high for downs we are devastated! Last test to do now is the Amnio which I will be getting in 2 weeks time as you have to be 16 weeks only then will we know for sure the outcome as the other 2 tests are screening tests and not A diagnostic test so the Amnio is the only test that will be 100% accurate.
I have read up so much on the last few weeks and the NIPT can sometimes give a false positive/ and false Negative result so I’m just praying that’s what’s happened.

There is a forum online with some useful info on it for anyone in my boat and its Given me a small bit of hope whilst I wait these agonising two weeks to get my Amnio test

The site is https://www.nuffieldbioethics.org/blog/nipt-private

I’m so sorry to hear this, I can’t imagine the worry. I’m crossing everything that it’s a false positive and thinking of you.

Thank you 🙏

I don't like statistics or risks, I like facts. So I went straight for a CVS. I was 36.

I wish I would have just went straight for the Amnio/ CVS now and not Bothered with the NIPT caused further upset and anxiety.

Did you get your results back for the CVS? How was it all

Oh yes, this was twenty years ago. Got the results back, all fine. They also told us the sex (over the phone), but that was with my agreement. So do mention that if you have a CVS.

Honestly, for me it was the best thing. No worrying, just an actual answer.

And we looked up the risk factors, it's not bad when you factor in that many of those pregnancies would have been high risk anyway, so the statistics are skewed.

Thanks for your reply and advice.

Im just praying mine comes back ok with a proper diagnostics and not a screening probability 🙏

Without an invasive test such as a CVS or amniocentesis, there are no "proper diagnostics", only likelihoods.

Yes this is the part they don’t tell you 😑

I’m booked in for my Amnio on 1st Aug when I’m 16 weeks so fingers crossed 🤞🏼

I think I had the same stats as you (i was 39), had the NIPT and it can back low risk. Personally that was sufficient for me, I didn't want the amnio due to miscarriage risk....I just couldn't have taken that chance after a low risk NIPT result. I think it's a very personal decision though, based on your own assessment of the risks and what feels right. My DD was absolutely fine. Sending a hand hold as it's torture waiting for the results 💐