Down Syndrome 'High' Bloods but Nuchal Normal - Couldn't do CVS!

[AbsolutePlonker]

Hi there, I'm hoping for advice.
FTM, 29 years old. 13+3.
I'm an absolutely state and looking for some support.
At my first scan I was too gassy for them to really see the baby. They finally got a dating measurement but weren't able to do a Nuchal measurement.
A few days later, the combined blood test came back with a result of 1/115 and I was high risk for DS. I have DS in my family and it's not something I want for myself or my child. I decided to do CVS, which was meant to be yesterday, but we couldn't do it because of the baby's position. However, the consultant said my Nuchal was 0.6mm which I believe is fairly 'safe' for DS. The consultant even said - 'I wouldn't be concerned about this'. However I can't shake off my worry. I have the Amniocentesis booked for the 23rd but I just feel...numb.
I am really torn about what to do next. I feel like I can't relax and enjoy my pregnancy as I'm so frightened and worried. I feel like I can't spread the word or be truly happy. Has anyone had an NIPT and can recommend it? I can afford £400, I can take it out of savings, but I won't get the results from that until the 21st anyway and it's only a screening, not diagnostic. I would love to hear people's thoughts or experiences.

So sorry to hear you are anxious. I had the nipt results before my screening which came back as high risk for ds. I believe its more accurate for positives for ds than others.

If you can afford it I would definitely do the nipt. It is not diagnostic, true- but is very accurate and you can still have the amino after if you want further reassurance. I got a 1:18 chance for ds. The nipt put me at 1:100000. I was reassured by that so didn’t go on and have more tests. It’s such a difficult time with all the waiting and not knowing. If you did the nipt you’d have results before Xmas. I was waiting for my results over my 40 th and was hard pretending to be having a lovely birthday when I just wanted to go to bed and hibernate. I haven’t had an amino- but I don’t think the results for that are instant. You’d have another wait on top.

I’ve had CVS with first baby and NIPT with second. Amnio results will take a while just like CVS or NIPT results, it all needs to be developed in the lab. So NIPT would get you quicker results and also non invasive so no mc risk.

NIPT is not diagnostic true but for Downs it is very very accurate.

I would have the NIPT in a heartbeat. Those odds, and if you got a negative NIPT, would give you a v v v probable outcome. If the NIPT predicted Downs, THEN i’d have the amnio. They arent perfect but the NIPT tests are miraculous. Just to say my combined test was 1 in 68 but my NIPT was ‘clear’. Have a healthy happy 6mo now. Either way, lots of love x

I would also have the NIPTY and it’s so close to accurate that it’s considered a given by some doctors, although they will also do an invasive test.

Shop around because many offer a scan as well which you don’t need, or else some hospitals will allow you to pay for it (although they don’t do the sex screening).

I know exactly how you feel, I’m also 29 and 2 weeks ago (at 13 weeks 3 days) I’ve been told I’m high risk for DS after combined screening (1:110). I was very concerned about the risk of miscarriage after amnio so I opted for NIPT harmony test and got results just yesterday. Luckily it was a good news and I’m low (less than 1:10 000) risk for DS. I’d definitely recommend NIPT for a peace of mind.
Whatever you choose I hope it’s a good news, best wishes ! x

Thank you all, you beautiful ladies. Just hearing that others are in my position has helped immensely!
We have struggled to find anywhere that will do 'just' the NIPT, and also anywhere that has appointments so close to Christmas. All our private hospitals have long waits for appointments and I'm not overly keen on places like 'Ultrasound Direct' after some reading online.
We have decided to wait because no matter where we went, we'd be getting the results on the W/C 21st December. A positive result would really ruin Christmas. And my Amino is booked for the 23rd regardless - with the results due back just a few days later.
My husband is a strong believer that everything is going to work out and he thinks we should listen to the consultant. For once, I am trying to quiet my anxiety and focus on positivity, because we have a less than 1% chance anyway.
All the best xxxxx

I was (sort of) in your position, although a CVS worked for me.

No way did I want to bother with screening, or chances, or "risks". I wanted cold, hard facts. Hence the invasive test.

So in your case, I would save the £400 and just wait for the amnio.

@AbsolutePlonker I'm sorry you're finding yourself here. I was high probability for T21 (1:40) + abdominal wall defect. We had the NIPT (harmony) before then at received the results on the same day. (Probability higher than 99.9% for T21). NT has been perfect all the way. We went through ultrasound direct (2nd time) and they've been amazing throughout and after she called me to give me the results she took everything off my hands and spoke to the hospital. I personally really cannot fault them in any way (except for making us wait over a weekend, but that's to make sure we got the immediate care we needed)
I hope things turn out well for you. We had a TFMR.

Glad someone feels the same. My MIL couldn't believe we hadn't done the NIPT but our financial situation is different to theirs!

So sorry to hear that. I wish you well in the future. We would do the same x

@AbsolutePlonker how are you? x

Hi all, thanks all for your thoughts. I am currently 16 weeks+6 and we finally got the results of the amniocentesis yesterday. We're all clear for Downs - but unfortunately they want to run further tests (using the same sample) to rule out Edwards Syndrome. They said the lab is fairly confident there's nothing wrong but there was some 'elevation', and they need another week to grow a culture.
Obviously this is not the all clear we'd been hoping for. I'm trying very hard to remain positive. It was a huge shock and no one has ever mentioned Edward's before now. A bit of reading suggests it normally shows up on the ultrasound because of anatomical abnormalities. Please keep your fingers crossed for the baby.

We decided to get the NIPT test before I had the NHS screening at 10 weeks as my risk was moderate during my first pregnancy (1:100) and I'm two years older now so was obviously going to be higher. Also 2 of my friends had DS babies that were completely missed on the NHS screening. One came back as risk at 1:2000! NIPT was by a mile the best thing I've ever done as when I got the phone call from the clinic to say risk had come back very high at 1:10 i would have completely freaked out if i hadn't already known that the NIPT came back as less than 0.01%. We used ultrasound direct and absolutely cannot fault them. They were superb. When I told the clinic I'd already had the NIPT she said to me that they wouldn't recommend any other tests (like amnio etc) as NIPT is so accurate. I would highly recommend spending the money if you can.

Ladies, I am pleased to say I had my Amnio results back and everything was fine. I also found out I'm having a girl. All the best with your pregnancies!