4mm nuchal measurement

[LMR25]

I went for my 12 week scan today, on my own just expecting it to be routine and the nuchal measurement came back as 4mm. The midwife was great explained everything to me, took my bloods for the test, explained the process and other tests to me.

They said about 20% risk for chromosome abnormalities. She took my email address so has been contacting me direct and booked me in for a cvs test on Thursday. It's all very quick and just been bombarded with so much information. She's put a rush on the bloods so hopefully the results are tomorrow before the cvs test but I think even if bloods came back ok I would still be worried and want the test.

Im 37 and this will be my third pregnancy.

Has anyone been in a similar situation with similar measurements? I know everybody is different but it's come out of the blue and just a bit shell shocked with it all to be honest.

My work are absolutely great and midwife has said to take the Thursday and Friday off work. I guess I will now more next week with initial results but will be a long wait

Hi OP, my dd is now 18 but I vividly remember the stress of being in a similar situation. I can’t recall the thickness but our odds were 1 in 13 of Down’s, Edward’s, Patau’s etc. I had a cvs test and we got the all clear. We were then sent to a London hospital for a heart scan and a repeat a few weeks later later. Both of these were clear and we went on to have a normal pregnancy and healthy baby

I hope that gives you some reassurance that these measurements are not always accurate and hope all is well for you and your baby. Try and distract yourself as much as possible and think positively if you can until you get the results.

Sorry you’re having to face this. Back in March I had my 12 week scan to be told there was a 5mm measurement and the mood quickly changed and like you I was bombarded with so much info and scary stats.
I’m now however holding my healthy 6 week old, and there’s lots of other positive outcome stories out there.
Process I went through was CVS & full microarray (bloods taken from me & husband as well as the CVS procedure). CVS absolutely fine, no pain just feels briefly odd. Initial results came within 2 working days then full results came within 10 working days. I then had scans throughout at 16, 20, 23, 28 and 36, all thankfully showing no concerns. I found fetal medicine to be amazing in what was a very dark time, please ask them anything at all on your mind, there’s also a great charity ARC.
Most importantly the measurement at your scan is NOT diagnostic, I wish I focused on this as I saw it as a given something was wrong but that’s not the case.
I wish you so much luck as you go through this process, any questions i’m happy to answer, more than anything - take care of yourself! X

Thank you both and very reassuring to hear. I am sure everything will be fine but it's just that what if.

Hospital have been great though, my cvs is tomorrow so I know by next week I will have the first set of results and hopefully put my mind at rest x

We had a measurement of 4.2mm. Odds of 1:5. All was fine after testing. I was 35.
did have extra scans as high NF can indicate heart issues. Luckily all was fine there too. She’s 10 now.

I also went in for my routine NT scan yesterday and was told NT measurement of 3.5mm. The sonographer said she would refer me to specialist midwife and I will be receiving a call today or tomorrow. I was measuring 13 weeks 1 day yesterday and I would opt for CVS if they offered. I want to accelerate the process but cannot reach them as the hotline waiting is too long.

Just had a call from the specialist and from my bloods yesterday it's come back as a high chance for downs syndrome with it being 1/45.

I have my cvs tomorrow so im glad it's happening quickly but just more worry really

Good luck with your CVs tomorrow! I’m still waiting for the referral to go through.

Thank you and it's odd why it's not being rushed through for you. They gave me the screening test immediately and booked me in for the cvs 2 days later. Said the high nuchal was enough on it's own for cvs. I hope your wait isn't too long x

Yes that’s my understanding too. I guess different hospitals have slightly different referral timeline? I do hope they reach out to me soon to start the process.

I've had the cvs and went absolutely fine, totally painless. Hospital have been great. Should get the first set of rapid results in 3-5 days

Do you know what would be tested?

@LMR25 I went in to the hospital today and was told to have 1/4 chance of Downs from the combined test. Luckily we already had the NIPT which ruled out it. The doctor said the next step is either NIPT or cvs, but cvs is only for the three trisomies (not other Karyotype). May I know if your cvs includes Karyotype?

I think it does include karyotype. This is what they are testing

@LMR25 thank you. Do you know except for the increased NT if you have other markers from the scan?

At my scan it was just the increased NT which was the only cause for concern

@LMR25 Thanks. I’ve read loads of research papers and I think isolated increased NT (in my situation as well) has a much higher chance of good outcomes. What are your combined risks of trisomies if you were told?

All I've had so far is the screening test which gave me a result of 1/45 for downs. I couldn't make much sense of the bloods but to me from what I was reading i dont think they were really high or low, I could be wrong though.

Beta Hcg mom was 0.6772
Papp a 1.651 with a correction factor of 0.9

Im 37 and weigh 83kgs so my weight may be a consideration with the corrected number

I had a NT of 4.6mm with DS - bloods came back as 1 in 3 chance of T21, 1 in 4 chance of Edward’s and Pataus. All came back fine after CVS so they assumed he had a heart defect instead, so up and down to the Royal Brompton for scans every couple of weeks but DS is 16 months and absolutely healthy as an ox, no heart issues or chromosome issues in sight.
awful awful time waiting though, so you have my best wishes. Sending you love

@LMR25 Don’t worry too much. My odd is it 1/4 in Downs (so much higher than yours) but I had already done a NIPT so not worried about it. But I do want to rule out other chromosome abnormalities if you see what I mean. Have you been offered fetal echocardiogram? I’m still waiting for the referral for that. Btw, I’m thinking of going to cvs alone as my partner might need to look after our two older children. In your experience, how long did it take including the monitoring phase?

@Tiddlersfish that’s reassuring. Do you remember when you were signed off from high risk from high NT measurement?

Thank you,that's very reassuring to hear and can't imagine what you were going through with the wait. Im glad your little one is here safely with no issues. Im sure everything will be OK with me and hospital are being more cautious just incase x

It took no more than 90 mins in total. My husband came as they wanted his bloods too incase anything is picked up they could then screen us both. I felt absolutely fine after and even drove home. Took advantage of them saying to take the next day off work too so im home but have been fine x

I was 37 when I got pregnant and my NT measurement I'm pretty sure was 6.4mm. So I was given a 1 in 6 chance of my DD having Down Syndrome, and 50% chance that something was "wrong" with my baby. I did the NIPT, came back all fine. I opted not to do the CVS.

She was born with a bowel condition and some mild heart issues. The heart issues all fixed themselves as she grew. She's 6 now and fabulous. I still remember the worry all pregnancy long. I think these extra tests can be both a blessing and a curse sometimes. I hope you get the results soon and wishing you all the best.

@LMR25 Interesting! Nobody has mentioned that they might take my partners blood too. But 90 mins should be fine we can be back in time for their bedtime. I am planning to take sometime off work for sure as it’s been an exhausting week. 😩

@starrynight009 thanks for sharing. May I ask if your DD’s heart condition and bowel condition detected during the pregnancy?