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.

Sorry to hear that, sounds scary. Is it your first baby?

I was in a very similar situation a few months ago. We had our dating scan at nearly 13 weeks and the baby’s NT measured 6.3mm so we were given very stark odds- 50% chance of a genetic problem, 30% chance of structural heart problem etc. I’m now 31 weeks and so far all tests have come back as reassuring. We had a normal amniocentesis and have had regular scans throughout pregnancy as well as a detailed heart scan, which have all been ok.
It was all very scary to start with but keeping everything crossed. Really hope you have positive news, the waiting is awful.

Have you had the harmony blood test (NIPT) ?

Sorry to hear that. I can't help with your potential diagnosis, but I am also dealing with a 50% chance of a healthy baby due to a different genetic disorder. So just saying you aren't alone, the waiting and worrying is agony. I'm only 9 weeks so have to wait 3 weeks for my CVS and another 3 for a result.

Sending strength x

@pebbles3004 thank you for reaching out! I’ve seen similar stories online but I haven’t actually spoken to anyone who is experiencing the same, so it’s comforting to know I’m not alone. I had my blood test results back which came back high for DS with a 1 in 51 chance. Also had my CVS (please don’t worry about this! I had to have a blood test after and that hurt more, it’s just a weird sensation) I got my first lot of results which tested for Down Syndrome, Edwards and Patau which all came back negative. Feeling positive for now, whilst they check the remaining chromosomes for the rarer genetic conditions. I’ve got everything crossed for you, and hopefully you’ll have answers soon x

@stonedaisy Hi Daisy, I think so? They didn’t call it this, but I had my bloods taken to clarify if I had a high/low risk for DS, Edwards or Patau. This came back high for DS with a 1 in 51 chance, but the CVS has ruled this out!

@Nubnut Hello, yes it is!

Hi @Teamrofl thank you for reaching out! I’ve seen similar stories online but I haven’t actually spoken to anyone who is experiencing anything similar, so it’s comforting to know I’m not alone. I had my blood test results back which came back high for DS with a 1 in 51 chance. Also had my CVS I got my first lot of results which tested for Down Syndrome, Edwards and Patau which all came back negative. Feeling positive for now, whilst they check the remaining chromosomes for the rarer genetic conditions and a more detailed scan booked in for the 23rd May! It’s reassuring to know there’s still hope and positive stories which have had a similar beginning! Good luck with the rest of your pregnancy X

@Rebeccar8 I’m going through exactly the same thing ! My results came back for 1:71 for ds.

do u have any updates x

Hi @Natalierosex, firstly I’m so sorry this is happening to you too but hopefully I can reassure you in someway! So we waited around 8 weeks for the further results from the CVS testing which thankfully came back all clear! I had 2 scans with a Cardiologist one not long after this as they were worried about a potential hole in the heart or baby only having one ventricle. I then another one at 20 weeks and she had no concerns regarding the heart which was such a relief! After going back and forth to fetal medicine I was officially discharged and I’m now under a local hospital for care. They’ve said I’ll have to have growth scans as a precaution from 32 weeks due to the high NT level and may have to have a special care plan (unlikely to be able to give birth in a birth suite) but as of today baby is looking perfectly healthy and they no longer have concerns! Did you opt for the CVS testing? I wish you all the best of luck, and please try and stay positive! Please keep me updated x

That’s great news @Rebeccar8, really hope the rest of your pregnancy goes smoothly and is less stressful! Fab that you’ve been discharged from Fetal Med.

Just to update on our story, I had a healthy little boy 4 weeks ago. @Natalierosex our results came back as 1 in 5 for DS and 1:42 for Edwards and Pataus syndromes. It’s so tough waiting for results and the shock of having a higher chance result was huge- I was convinced the baby had DS, but that wasn’t the case. Thinking of you and wishing you all the best for your pregnancy. X

Congratulations @Teamrofl im so glad everything worked out well for you! X

We are on similar boat and have 50% of healthy baby 33% genetics and 20% for heart problems. Just had CVS today but I do feel much better after these numbers. When I had my 12 weeks scan it was so worrying nobody said anything just scare you it's something seriously wrong with your baby!
Hoping for clear CVS 🤞

@Valwithhope Good Luck, I hope you get good results back! The stats you’ve been given were very similar to mine, and I’m now 31 weeks pregnant with a healthy baby boy as far as all tests show! Please keep me updated x

@Rebeccar8 I think our situation is very very similar as my NT also measured 4.5mm. I know 50% not the best number but I had 20% hope from my Monday scan when they completely crushed me and had the worst 48h of my life.
At fetal medicine, luckily they haven't seen anything with the heart but it is also not developed fully to see enough of the organs etc. How we baby is measuring fine and he could see everything is in perfect size.
I haven't received my blood back yet but we already done the CVS yesterday so I do hope for the clear results 🙏🙏🙏
I feel positive after the consultation with the OB he didn't seemed negative at all just gave us the facts. He already booked me in for my 20 weeks scan and also next day for a scan with the paediatric cardiology.
I'm so full of hope because of your story that our baby is healthy and the test results will come.back all clear 🙏 how long was the rapid CVS for you to come back? I'm praying I might hear back by Friday so I don't have to go through the weekend waiting! X

@Valwithhope it sounds very similar doesn’t it! I was the same in terms of being given 50% I felt crushed, but then I also tried to stay positive and think well 50% is still 50%? It’s great that everything is measuring the size it is, and even though they were super concerned about our babies heart in reality it was just too small to see and at 20 weeks they confirmed everything was fine with baby’s heart! So we waited 3 days for downs/edwards/patau to come back and actually ended up getting my blood results back after this! They said the further testing for the rarer chromosome defects would take a little longer and have us a time frame of 3 weeks, but we actually waited 8 weeks which wasn’t ideal but it went pretty quick! I’m now 31 weeks with a very active and (big) baby! I’ve got my first scan since 20 weeks in 2 weeks time, so I’ll keep you updated in terms of what else happens! But fingers crossed for your family and baby for positive results 🙏 x

@Rebeccar8 I just got my blood back and we got 1 in 10 for DS which is a bit worrying. But I still try to stay positive for Edwards and pataus we have a very low chance. Midwife said we automatically gonna be high risk cause the NT fluid so I'm trying to detach myself from this result and hoping for the best from the CVS results.

Ah 8 weeks it's awful! So sorry you had to wait so much I don't even know how to tackle with this 2 weeks and just the 3 days waiting for the rapid is already driving me up the wall...
I'm so glad everything goes well for you and your baby! Fingers crossed for your scan I'm sure everything will be fine now you are through the hardest! I wish I could be there now and know everything will be fine 🙏🙏 xx

@Valwithhope I had almost convinced myself our CVS was going to come back positive for DS and similarly I was just hoping the other two would come back clear as the hospital had said the outcome wouldn’t be the best if so! I can imagine being given a 1 in 10 chance is scary, but that’s still only 10% and your baby will be loved and perfect either way! I was also told from 12 weeks I was high risk due to the increased NT levels and was monitored every 2 or so weeks up until 20 weeks! I’m now classed as low risk due to everything looking ok for now, theyve just said i won’t be able to give birth in a birthing suite and will have to be a delivery suite, which doesn’t bother me! I know this is supposed to be such a happy time and the worry and not knowing can take over, but please try and stay positive and I found so many similar situations online where everything turned out fine and just hoped I could be one of them - and you could be too! I didn’t really start enjoying my pregnancy until 20 weeks but what I will say is now looking back the whole thing has flown by, so I’m sure you’ll be in my position in no time! Xx

@Rebeccar8 I am so up and down. Sometimes I feel positive and in my gut I just feel it can't see that theres anything wrong! The structure of the baby nasal bone face legs etc everything looked fine on the scan. I'm not saying I'm ignorant as how could I be but I don't feel it. Before the 12 weeks scan I had very bad feelings and my entire first trimester I just thought 'something will go wrong' but now I feel everything will be ok! I don't know if this is all stupid and just saying to myself..I need to stay positive and have faith this baby is ok. Your replies really giving me strength and other people's similar story. So thank you for replying. My husband is very supportive (the best) but i feel like he will never understand the same way as another mother going through this.

Midwife also said probably the NT fluid and my age (I'm 35) goes towards a lot to this 1 in 10. Unfortunately she didn't give me details on the blood.

I wouldn't worry about the birthing suit either so I completely understand and I'm so so happy for you! It's fantastic news and you can actually enjoy your pregnancy!
This is exactly how I feel..instead of enjoying this time I'm just full of worries and tears 😕

I'm so scared of the results which I'm.sure it will come back on Monday now xx

@Valwithhope how are things going?xx

@Rebeccar8 thank for checking in! We actually had the CVS about 3 weeks ago and after 4 days we got clear results for downs Edwards and pataus! It was an absolute relief and then we just had the call last night the full CVS is clear!! I'm so happy absolutely over the moon I feel like I can breath again! And the day before we got to hear the heartbeat which was a massive reassurance!

Now just got to wait for the 20 weeks scan and a fetal echo scan. I'm quite positive it will be fine. Oh and it's a boy!!

How's everything with you? How did your scan go and when are you due now?? X

@Valwithhope so sorry it’s taken me a while to come back to you! I’m so happy for you that all your results came back clear, so a massive congratulations to you and your family! I hope now you can enjoy your pregnancy and the remainder be somewhat normal!

I had additional growth scans from 32 weeks every 2 weeks which never showed any issues bar baby boy being a big baby but his growth slowed down towards the end and ended up being exactly where it should be! I got told at 38 weeks I was officially low risk and could go into the birthing suite if I wanted they just had advised they didn’t want me to go too far over 40 weeks and advised I booked in an induction a few dates after my due date!

At 39 weeks and 3 days I had reduced movements so went into triage (baby was fine) and as I was so close to the end they offered me an induction there and then, which I took! The induction ended up working much quicker than the doctors wanted and they couldn’t slow it down, I was also showing symptoms of having an infection so the doctors all agreed it would be best to have an emergency c-section. I was never against a c-section and thought the word emergency would be so chaotic but it honestly was still a lovely experience just a much quicker one than I had originally pictured! Noah was born on Monday 6th November weighing 7lb 9oz and is perfect in every single way possible! He’s been seen my a paediatrician who has confirmed he’s healthy and has no concerns!

(all them tears and worries for nothing, but it’s all irrelevant now as we have our baby boy here and he’s okay)

how are things with you?

@Rebeccar8 i read through this full post hoping you would come back with an update, didn't wanna to run without saying congratulation on the arrival of your baby boy and so glad to hear all was healthy. I'm not at the stage of having that scan yet as still very early but feel it's the next hurdle and worry and have seen a few posts when odds didn't look good initially but all turned out well so trying to let myself be reassured

@Rebeccar8 oh my goodness huge congratulations!! Don't worry about not replying sooner I thought you must be close now having your baby; but I'm so pleased to hear everything turned out fine! Sounds like slightly chaotic but then such a lovely experience! I'm so happy for you and please enjoy your beautiful baby boy now and wishing you a speedy recovery from the C section 💙

We had our 21 weeks scan past week including a scan with paediatric cardiologist and everything is fine! Baby boy looks happy, very active and everything how it should be. The cardiologist said everything looks reassuring and they don't need to see me again. We have a 30 weeks scan at FMU end of December and if everything goes well we can be discharged 🙏 we are so relieved I feel like we can plan ahead a bit more now and enjoy the second half!! Xx

Hi

i had the nuchal translucency scan yesterday with 4.8mm but no anatomical abnormal features but am 13 weeks so hard to detect via US. My pap was slightly raised and my hcg slightly low which is the inverse of the pattern for Tr21. I’m 31 years old third pregnancy one termination and one miscarriage. I’m also taking progesterone pessaries which I read could affect nuchal translucency.

We we’re told there is a 50% chance that something is wrong be it chromosomal or structural. We did the CVS test and am awaiting results.

does anyone have any experience or advice ? My partners devastated I don’t know how I feel but you seem to read positive stories but that could be skewed as more likely to post ?