12 weeks scan unable to take measurements for Patau & Edwards syndrome

[Sparkles512]

NHS 12 weeks scan and baby has a good heartbeat and wiggling around nicely.
They couldn't take any measurements due to position of baby. They won't offer a rescan and didn't do bloods today.

They have offered a blood test at 15 weeks for Down syndrome but cannot test for Patau or Edwards syndrome unless we pay private £300.
They said usually at the 20 week scan they would notice any abnormalities for Edwards and Patau syndrome so not to worry about it.

Would you pay for the private tests? What are the chances of baby having any of these conditions?

This is second pregnancy and I am 28 years old if that makes any difference?

Thank you 💗

Yes personally I would not want to get to 20 weeks without knowing. I’d do everything I could to get the £300 together to pay for the test.

I'm sure the test they do at 15 weeks should include edawards and patau, mine did. Can you speak to your midwife to check this?
If not then yes I would pay. It's not something you want to leave to chance

@Princesspeachee they only offer Down syndrome on the NHS at 15 weeks.
If I want the Patau and Edwards then it's a private blood test which costs £300. I'm 13 weeks 1 day today so have another 2 weeks to wait if we go for the NHS Down syndrome test then have to wait for the 20 week scan to see any abnormalities

I would pay for NIPT personally (I did back on february). My NHS results were only just outside the high risk category for downs and I didn’t feel relaxed with the result. Sooooo glad I went for NIPT. It was worth every Penny to me for the answers. This was also my second baby

I had the exact same thing with my little girl so I did pay for the private NIPT. That was also stressful as came back inconclusive 3 times, by the time I finally got the result I had had the 16 week nhs scan and both ended up coming back perfectly normal with no issues.

She's now a very healthy 2 year old! :-)

I'm now pregnant again (very early days) and will definitely pay the extra again if 12 week scan can't be done properly. For me the worry was just too much so it was definitely worth doing.

Hope you are ok and get some good answers soon x

Hi,

same thing happened to me.
i waited until 20 week scan to ask about it, but MW said that it’s not easily detected in this scan which made me slightly confused as - similar to you- I was told (during my 12 week scan) they would be able to tell me at 20wk.

DC was born happy and healthy :)

if there is any family history or any concerns, I’d say do a NIPT test for piece of mind ! Good luck

I personally wouldn't bother. In Ireland they don't do any testing

I had this with my first. I chose not to have the NIPT. This was mostly because, while the sonographer couldn't fully get the measurements, she could see that the nuchal space was not large. I then had the Quad test at 16 weeks, which came back low risk. The anomaly scan was normal, though needed repeating twice due to naughty baby shenanigans.

Edwards and patau are a lot less common especially at your age. Only pay if you think the price is worth it for leave of mind but they are rare conditions and I think they also often lead to early miscarriages if the unborn baby has it

I am older so I paid for NIPT privately for my pgs as my age meant there was a higher risk. It showed a very high risk for Patau in one pg, which was diagnosed after a CVS, so I had a TFMR at 14 weeks. I was able to have a surgical termination, so I was asleep throughout the procedure and felt no pain and didn't go through labour. A later termination would have meant a more complex procedure. And I hadn't told anyone about my pg, as I wanted to wait until I got the all-clear - by 20 weeks you'd be showing so you'd get lots of awkward questions. And you'd feel the baby kicking etc. There's a time factor too - a 20 week scan might happen a bit later than 20 weeks due to lack of appointments, then if you need additional tests that could take another week, then you're getting uncomfortablly close to the 24 week limit. So for me, it was absolutely worth having the NIPT, especially if the alternative was having to wait until 20 weeks.

Our options are;

1. Wait until 15 weeks have a blood test just for Down syndrome which is around 75% accurate. Then wait till the 20 week scan to check for abnormalities which may be linked to Edwards or Patau syndrome.

1. Pay for a private blood test at the cost of £300 which is more in depth and 95% accurate and tests for all 3 syndromes.

1. I can change to different hospital as im currently under 2 different trusts. They can probably get me the scan and bloods on the NHS as long as baby is in the correct place and I give birth at that hospital which hasn't had the best reputation in the past 🙈

I'm inclined to go for the private test but my husband think we should just wait for 15 week test.

I'm worried about the difference in finding out at 14/15 weeks to 16-20 weeks 🙈

Our baby wouldn’t get in the right position for the measurements at the 12 week scan and we were advised options were pay for NIPT privately or quad test at 16 weeks for downs only. They advised with Edwards and Pataus major abnormalities would show and they hadn’t seen any of them. Quad test came back 1 in 59000 risk for downs.
However I did say if this happened in a future pregnancy I would perhaps get the NIPT for the reason of if there are issues you find out sooner rather than waiting until 16 weeks and then needing further tests etc.

I can’t believe that’s the policy, that’s outrageous they wont just rescan you. Have you tried PALS and explaining the anxiety it’s causing? Honestly, I can’t believe the NHS sometimes.

Assuming that gets you nowhere, I would pay if you can get the £300 together. I had the NIPT and so accurate I felt very reassured - also the bonus of finding out the sex.

Alternatively you could get a private 12 week scan and blood tests - I think it’s cheaper than NIPT.

I opted for this. There was a cheaper option. Personally for me, waiting for weeks would make me anxious, so I had mine done at 9 weeks. Results were back in a few days. Couldn't put a price on the relief xx

I had three goes at the 12 week scan due to a very uncooperative baby! I wasn't that pleased to then only have the quad test, but it came back low risk, and all seemed fine at 20 week scan (although again we need another due to baby facing the wrong way!).

Sonographer did say the risk was very low, and I felt comfortable enough to wait without a private test.

Although I do think it's a lot of money, if it would offer you real reassurance, it's probably worth it in the grand scheme of things if you're able.

@Mushroo I have spoken to PALS and they have spoken with the maternity manager and apparently its policy amongst most NHS trusts to not offer a rescan.

I've tried 2 private scan places within an hour of our house and neither offer scan measurements or bloods.

I think I will have to pay the £300

@Sparkles512 that’s such a crap policy, the state of healthcare really is in crisis. I hope you get good results from the NIPT xx

Can confirm. That was, and still is, the policy at my trust 4 and a bit years ago when my first was uncooperative.

In fairness, I do get it. There are only so many sonographers and hours in the day, and they need the extra appointments for emergency scans, repeat anatomy scans, and growth scans for those further on in their pregnancies. My trust also offer a 36 week scan to all, and I would much sooner have that tbh.

Thank you to everyone for your advice it's been really helpful 🤍

I paid for the NIPT blood test today and hopefully the results will be back by the end of next week 🤞

Concepto offer the NIPT (Down, Edwards, Patau) blood test only for £199. No scan - you'd need to show them the NHS scan report I think to confirm viability. But furthest north location is Milton Keynes.

At 28 your inherent risk is much lower. I'm 42 so did it before my NHS nuchal scan.