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! No, only the 6.4mm NT measurement and single artery umbilical cord were detected, which is why I was told something might be going on. But 6.4mm is very high. It was basically a 50/50 chance something was wrong but I had extra scans which all looked fine. It was considered a low risk pregnancy. So it was a shock when she was born and immediately taken for bowel surgery.

It turned out she has a rare condition — though thankfully, a very mild form of it. They did a full chromosome test, which came back completely clear, so it was just one of those things where something went a bit wrong early in pregnancy.

I hope I'm not worrying anyone. In most cases when I read people worrying about NT measurements everything turns out perfectly fine, and their babies are born healthy. But I do like to share my story as someone whose baby wasn't born healthy but things still turned out okay. I remember being so afraid of what the future might hold when my baby was born. Now, I look at her — riding her bike, swimming, just being a bossy, happy little girl — and I wish I could tell that anxious version of myself that it will all be okay.

@starrynight009 Glad that all is well with her now despite some initial worries!

@LMR25 just wondering how you are getting on? Have you received any results yet from cvs?

@LMR25 Have you had your full results back yet? Im also in a similar situation to you, im 38 and this my 3rd pregnancy, 2 very healthy children, went for our 12 week scan on 6/11 and found a raised NT of 4.6. The team was very concerned and booked me in for cvs on 10/11. We received the combined results back at the cvs appointment which was 1in2 for downs! We were so convinced this woukd be the result we received but first set of results were normal for downs/edwards/pataus! Now awaiting the 2nd results and i feel so sick with worry every day its eating away at me.

just want to say I’m in a very similar situation- 38 years old this year and am currently pregnant with my 3rd. I had cvs one day after you and now waiting for the 2nd set (microarray). I try not to think about it but it’s like this dark cloud over my head. I also went for an early fetal echo and all went well. Now waiting for this microarray and anomaly scan. It’s so hard as I had very bad morning sickness up till 14 weeks (could be HG).

I have received my first set of results ,they were delayed due to some equipment issues with the lab but come back negative for downs, Edwards and pataeu. Waiting for the second set of results still but im not worried. They have said the high nuchal fold 95% of positive cases are in those 3 so it's unlikely it's anything else but the other set of results should be here anyway now

@Anusername its realy hard to try and just carry on as normal isnt it i also had worse morning sickness and just put it donw to my age. If the 2nd set come back normal they will then schedule me for the fetal echo but i just dont want to plan to far ahead now. Im so sad as i dont think my husband would want to try again if there is something seriously wrong.
@LMR25 my geneticist was quite blunt with us and said not to get our hopes up as just bcz it isnt the first 3 it often flags up a microdeletion/add on or then a cardiac issue so we are just so worried of what will happen next.

@RT231 same - we won’t try again as I’m very bad at pregnancies and I’m getting older! When will your microarray result come back? I’m anxiously waiting for that and also the early anomaly scan…

@Anusername ours are due back Monday how about yours? How old are your other children our eldest is 16 so big age gap for us it took us a while to decide wether to try again so it was a big decission. @LMR25 let us know when your results arrive back fingers crossed for you both that all is ok x

@RT231 same - also by next Monday. My other two are 7 years old and 22-month old. They keep me busy so I don’t have a lot of free time to worry. Fingers crossed results are all good!

I've had a call back from hospital and the micro array has picked up something but they couldn't tell me anything o the phone and said a genetecist will call me to explain better. Asked if myself and husband could provide more blood. Just waiting for that call now which could be a few days wait. This is the first time I've properly felt anxious about the situation knowing there is likely bad news.

In my head im now telling myself im going to be having a TFMR. Im just glad I've not told many people about the pregnancy yet.

The waiting must be very hard OP but there will be a range of issues they could have picked up so please don't jump to the worst scenario - I know that's easier said than done

Oh thats realy hard having to wait a few more days now to find out, have they scheduled an appointment for you to go in? They must be doing a very detailed check for you as me and husband didnt have any bloods to go along with ours. It could be something small try not to think the worst but thats easier said than done as its such a stressful situation. Thinking of you please message if ud like to chat x

It sounds so hard that they cannot immediately tell you what the result is and what that means. Have you had an early anomaly scan and fetal echocardiogram? It could be something subtle but they want to make sure all is well. It is really hard to live in a limbo and imagining the worse.

Thank you all, its hard not to worry but I would rather have waited for the geneticist to call direct rather than hospital then their call. Said out through an urgent referral for the call. Im going to work from home until I get the call as just won't be myself.

So had 12 week scan where the 4mm nt was deleted. Had bloods there which cane back with 1 in 43 chance for downs. Had cvs 2 days later with the rapid results test being clear for Edwards, downs abd Palau. Did another scan at the cvs test where baby wad structurally complete with no physical abnormalities defected. They took mine and my husbands blood at that appointment incase anything was picked up and needed to test ours but then requested more bloods from us today in the phone call.

Im waiting for the next call before I give more blood just because I wouldxratger know what's happening before going back up the hospital blind.

I have a 14 year old and 13 month old and I know all pregnancies are different but this pregnancy feels different than previous as if im not pregnant other than the little weight gain and increase in breast size. May just be a coincidence but something I've noticed

Isit that your also trying not to get to attached aswel incase there is a problem i found myself thinking of myself as not pregnant like its a automatic defence mechanism from being hurt. I dont think its fair of them to give u that call and then make u wait another few days whilst ur now worrying! They should have waited to explain whats happening not leave u in the dark. I think differnt hospitals must have their own procedures/pathways that they follow as they all seem to be different. I hope you get the call soon so you know whats happening x

I've had the call with the geneticist and baby has partial duplication of chromosome 2. She shown me in a graph the duplication and it was quite long the duplication compared to others who have it. She said the degrees of what it can be will vary person to person but is learning disabilities, intellectual disabilities, possible autism traits, could be non verbal and not communicate etc.

She said with the amount of duplication tlshe would be more cautious with what it could mean but they cannot say, it could be a mild learning difficulty or could be serious affecting multiple areas.

Im terrible with making decisions on what to do and feel if it was something more serious my decision would be much more easier to make.

Im.thinkimg in my head worse case scenario and feeling to terminate but then my baby could have nothing more wrong than a mild learning disability

After discussing with my husband abd reading up more i have realised it is much more than just a learning disability and a rare chromosomal disorder.

With the amount of duplication we have being very large and how severe things may be we have decided to terminate with our appointment on Thursday.

I really admire anyone who can go ahead with knowledge like this but I know personally I could not cope and my current children would suffer as a consequence.

Im just glad to now have an answer and what a u turn with thinking it would be nothing especially after the rapid results were all clear

Sorry to hear this. I’ve been following your post. I lost a baby to pataus (t13) earlier this year. I would also terminate if I was u. We are now 26 weeks pregnant with a healthy baby boy. The first few weeks were worrying but we was well looked after with extra tests and scans. I’m now enjoying a stress free pregnancy. I wish u all the best xx

You've been through a very tricky time and must be emotionally drained. I have personal experience to something similar but won't go in to that because you and your husband have made the right decision for you both and it won't have been easy to come to. Wishing you all the best x

Oh OP so sorry to hear that and the wait for the news must of been horrible to. We also had these discussions and would have decided to terminate in theses circumstances. I think you are doing whats right for you and your family. My thoughts are with you for Thursday x

Thank you all for your kind words. I wanted to update as I found it helpful when reading past posts. Mine and my husband bloods were also taken to check if we have any abnormalities with the same chromosome baby had duplicated however genetecists thinks it would be unlikely and just one of those things.

I thought the termination would be straight forward and I would be in and out the sane day but that didn't happen. I arrived at 9am abd baby didn't pass until 8pm after 3 doses of misoprostal,i had no bleeding prior to this is just happened at once. The placenta didn't come away naturally, had another dose to help but it didn't. Doctors tried manually removal but was coming away in pieces. Blood pressure kept dropping and lost approx 1.4l of blood so had surgery around 1am to remove everything. Ended up on hospital 2 nights but just glad its over with now.

It's hard to explain and I dont want to sound cold but from the beginning I distanced myself from the pregnancy, didn't buy anything, didn't tell many people and wasn't excited. Before my scan I felt it wasn't a normal pregnancy its as if I already knew. I didn't want a memory box or anything, husband had left the room for about 30 mins when I passed baby and he didn't want to see either.

My hospital have been amazing from my 12week scan week 4 weeks ago until now however the last 4weeks have emotionally dragged me down with the unknown.

We will definitely try again in the near future and hopefully a positive pregnancy to come x

@LMR25 I find your bravery commendable to go through this and share your story to help others in the same or similar situation not feel so alone. I hope each day gets easier and 2026 is kind to you x

OP i am so sorry to hear of your experience. Going through the testing and the waiting and then receiving the results was hard enough for you but to then have this traumatic experinece at the end must of been so hard. Thankyou for updating so that others will not feel alone. I do not think your reaction is cold i think its your bodys way of coping with this experience and im sure you are not the only one who has felt this way. I wish you all the best in the future i hope each day gets a little easier and you are able to move on from what has been a traumatic time in your life. Be kind to yourself xx