High nuchal scan and CVS test

[Rebeccar8]

Hi everyone, just looking for any advice or if anyone has been in the same situation as me?

Had my 12 week scan, and was measuring 13w1d. The hospital noticed the nuchal translucency was measuring 4.5mm and due to baby’s position they were struggling. I had bloods taken to check if I was low/high risk and I was referred to a fetal doctor and had a more in depth scan yesterday. (Still waiting for these blood results) She confirmed she agreed with the sonographer and the NT was over what they wanted. Again due to baby’s position and baby seemed reluctant to move, she again struggled to have full visibility but noticed the femur bone was slightly short and mentioned concern of an underlying heart problem as the 4 chamber view was not normal and only one ventricle appeared to have colour flow doppler. We were given stats of an underlying chromosome or genetic problem 35%, possibility of baby having an underlying structural problem such as a heart defect in 20% of cases and the chance of a healthy baby with no underlying problems is approximately 50%. I opted for the CVS test and hopefully should have the 3 results in a couple of days and the further in 2 weeks.

Hi @Curlyca
So sorry you are going through this I know exactly the feeling. We had NT 4.5mm at the 12 weeks scan and it was an absolute nightmare we went through with the waiting. My blood test came back also 1 in 10 for downs. We had the 33% chance for genetic problems and 25% for heart problems. We did the CVS and all came back clear then another dreadful 6 weeks waiting for 20 weeks scan and baby had a perfect scan including a heart scan!

I'm 29 weeks now and just had a scan everything seems to be fine apart he has short long bones (he is exactly in border line) so we just have to go for another growth scan. I was discharged from Fetal medicine and consultant didn't seem overly concerned and there was no any other anomalies detected.

My advice (which is easier said than done) try not to worry too much. I know it's incredibly hard but you can't do anything until you have the results. I was in absolute bits and I wish I listened more to.my husband who tried to keep the faith in me. I hope your results will come back soon (and all clear!) and you can relax a little bit more. X

Thank you , glad to hear the information coming through to you is good news so far. So we were told you could have chromosomes and structural come back as ok but still at birth the child could have some undetected genetic conditions.

we were told there is less than 50% chance of things being ok from the consultant but he said this is his experience based guess.

Yes, they tell you always the CVS tests for a lot of genetic conditions but it's never guaranteed. But if you got the test clear you already ahead of everyone else who isn't done a CVS so just try to stay positive! I think you can still rule out a lot of genetic problems with the CVS.

I think some consultants at fmu can be quite negative and I have heard from others they haven't had a 'great experience' . Luckily, our consultant is quite realistic and neutral he based a lot on numbers and what he can see at the moment suggested get the CVS done as he can't say anything more until.

Try not to be too negative at this stage it could be anything good and bad. I keep everything crossed for you

Hi @Curlyca
I posted our story on the original post up thread, but just wanted to send solidarity. Almost exactly this time last year we found out that our little boy’s NT was 6.3mm so were given a 50% chance of chromosomal problem and 30% chance of structural cause. My combined screening came back as 1:5 for Down’s syndrome and 1:42 for Edwards and Pataus syndromes. We were completely shocked and overwhelmed.
I waited a couple of weeks and had an amnio which came back clear and then had regular scans and a Fetal echo, all of which were fine. I’m currently sat feeding our healthy nearly 6 month old. I won’t lie, the worry didn’t go away immediately after he was born, as someone has said, I was worried there could be something undiagnosed, but that has gradually lessened, particularly as if anything his development is ahead of his older brothers at the same age.
Keeping everything crossed for you and sending support.

Thank you ! It’s a hard situation to be in, but I guess we hopefully go through it to know what to say when people tell us of their experiences.

Happy for you!

@Valwithhope thank you so much! Baby boy is 8 weeks old on Monday and is thriving beyond words and is more than perfect and healthy in every aspect!

I’m so glad things have been going well for you and it’s brilliant news that you don’t need to see the cardiologist again! Have you had your latest scan with FMU yet? If not all the best of luck and baby boy will be here before you know it, and all the worry and stress will all be forgotten and you’ll have your beautiful baby boy xxx

@Curlyca Im so sorry you’re too going through this! I hope from all the positive comments on this post it can give you some reassurance until you get your CVS results! We too had increased fluid and was given a 50% chance also of a structural or chromosomal defect and a blood test showed a high chance of DS. Our first initial appointment with FMU was awful if I’m honest, the consultant was very doom and gloom and offered me a termination on multiple occasions throughout. After going back and forth weekly their outlook changed and they seemed much more positive and after having the CVS results come back clear it put our mind at ease slightly. Like everyone has said please try not to worry too much! I tried to stay realistic and didn’t want to get my hopes up and my partner thought everything was going to be fine so we had different outlooks I suppose but I do wish I had been given the chance to enjoy my pregnancy slightly more. My baby is now 7 weeks old and is a thriving little boy and the doctors have no concerns.

I hope my story can provide you with some hope and peace especially over the Christmas period and try to enjoy this time of growing your little baby.

I wish you all the best of luck with your CVS results and the rest of your pregnancy and please come back and let us know how things go if you’re happy to do so xxx

Hi

thanks for your response, we had the initial CVS response as negative. Waiting for further assay so am not out of the woods yet but feels like the first hurdle is over but we are just at the start.

will let you know !

Thanks,

Caitlin

@Curlyca Hi Caitlin,

Congratulations!!! Wishing you all the best for your second lot of results and hopefully you don’t have to wait too long!! X

Lovely news Caitlin! I'm so happy and hopefully the rest will be fine too!

@Rebeccar8 aww I'm so pleased to hear your baby boy is happy and healthy!! I bet he is growing so fast!

Yes, I have had the appointment about 10 days ago. Everything was fine however he said he has short long bones! He is on 3rd percentile with his legs and arms. He wasn't overly concerned he is on the margin but he had to bring my attention to it which it did upset me tbh! I don't think they get it even if it's not a big deal what impact has it on me now! It could easily be the case me and my husband are both short I'm 5ft 3 my husband is 5ft 8 so I didn't expect a basketball player! He is fine in weight everything else it's just he is on the line!! He also said if he stays.like this it's absolutely fine but the growth needs to be constant. He did discharge me from FMU so I guess he wasn't really worried about it but he send me for another growth scan which is next week.

He also mentioned the blood flow from the placenta isn't 'perfect' but like I said, again, he was not overly concerned just said watch his movements. This could also be the reason why he is a bit slower on the legs.
I spoke a lot with my husband who's chilled and reckons it's really nothing and not even bad news! Like when he will born he can easily catch up in case he is a bit short on the legs. I really don't wanna stress about things anymore as what happened before, and like you said I need to try and enjoy these last few weeks!! I don't wanna have just awful thoughts and stress what if what if... I hope the growth scan will be all good next week because I just want this worry to be over! Xx

Hey,

It took a while to get the results back as there was a sample error… it came back normal! So we have a scan tmrw to check for anomalies with the consultant.

now I’m so worried that something wrong will be on the scan but the anatomy was normal before so I hope ok.

It feels so good to have these results but that the worries won’t stop.

anyway thanks for all the support !

The anatomy scan was normal so that’s reassuring have another 20 week scan so now we are in a much better place. Thank you for support

I'm so pleased to hear @Curlyca everything went well and I'm sure you can relax now a bit! I remember I was so anxious before the 20 weeks scan but that went well too and it was such a relief! Update us I'm sure it will be all fine X

Hi all,

just wanted to update you all, we had all the tests and scans and everything came back normal, we have a happy healthy boy. So there is hope always