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Antenatal tests

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12 week scan, high nuchal translucency measurement

42 replies

RorysMamma · 28/07/2022 13:57

We just had my 12 week scan. I'd already had a private early reassurance scan at 8 weeks due to my thyroid being very off and increased risk of miscarriage. Everything looked fine although maybe a little on the small side.

Because they'd been unable to help my worsening thyroid levels I was terrified there'd be no heartbeat, any other issues hadn't crossed my mind, partly due to the early scan and the fact that we'd had a healthy baby 3 years before. I was so happy to see a wee heart fluttering but the sonographer instantly asked me about down's syndrome screening. I said i wanted any and all safe tests, I'm 38 and we experienced infertility with our first and had been trying for over 2 years for this one. She said the nuchal translucency was high, at 4.4mm and that it meant an increased risk of chromosome abnormalities and other issues.

We were ushered off to a little room and waited for a consultant and genetic specialist midwife. He went through the possibilities, Down's, Edward's and Patau and if none of those heart defects. He led with, many couples choose to terminate immediately which just broke my heart. No judgement to anyone who would choose that but that isn't me.

He went through the other options, a nhs blood test to show risk of chromosome issues which would take a week to 10 days but wouldn't tell us much then a second chromosome specific test which we could wait for or pay to do privately. I could have an amnio to confirm if that test is positive but that carries a small risk of miscarriage.

He was full of statistics and it was all very sombre. (He also shushed me and told me it was his turn to speak and I'd get mine and called me something like young lady).

We opted for the private test to know sooner and left feeling like our baby was doomed and we'd never meet it. I'm struggling to process any of it. Everything i see looks so hopeless but then I saw a few old threads of people online who had very similar experiences and went on to have healthy babies. Hope is sometimes the worst thing but I don't know how to make the decisions they're going to ask me to make. I love and want this baby but they said the phrase "not compatible with life" multiple times when discussing the possibilities which was just devastating. This little one has held on to 12 weeks, 2 days despite my TSH (thyroid levels) of 8.9 at the highest, I don't want to give up on it now but don't want to make it suffer if it can't survive or would die at a few days old. I'm completely lost and don't know what to do. I'm hoping someone can offer some advice, shared experiences or words of comfort. I'm signed off work with my thyroid anyway but in my small team of 5, my colleague's wife is pregnant, about a month ahead of me I don't know how I could go back and have to hear about their baby all the time if I lose mine. Euch my brain is just all over the place.

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gunnersgold · 28/07/2022 16:00

Have they told you what is wrong with the baby or have you had a cvs and a micro array done on the sample ?
Has the baby got any physical abnormalities or just the nuchal fold measurement being high ? Have you had the nipt test ?
I find it hard to follow but they wouldn't just say incompatible with life unless they had a diagnosis or could see an issue with the babies face or body .

cestlavielife · 28/07/2022 16:05

"Might" be life threatening or definitely? unless other structural issues already clearly observed you wont know prognosis yet so
Get the tests so you know what you dealing with
There are many possible outcomes
Good luck

RorysMamma · 28/07/2022 20:07

Only the nuchal thing, that's the issue. They mentioned the not compatible with life a lot when they were talking about all the things it could be. The test they're doing is the Harmony Genetic Screening one, think that's the NIPT one but honestly this all just happened yesterday, I don't know a whole lot about the subject matter and options. I've seen a lot online about the CVS test online since yesterday but it wasn't mentioned, only that I could have a "needle in the belly test" as he called it to confirm if the harmony test is positive

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gunnersgold · 28/07/2022 20:26

The cvs will give you a definite for downs Patau and Edwards but not for all genetic issues .
Def have that at least before you abort

cestlavielife · 28/07/2022 20:30

"yesterday but it wasn't mentioned, only that I could have a "needle in the belly test" as he called it"

Wow how patronising!
Looks like you got a consultantcwith zero manners . There are so many conditions. Lots are wholly compatible e with life with wide spectrum of outcomes. One step at a time. It might resolve.

Bordesleyhills · 28/07/2022 20:38

Having had a high NT measurement I would suggest a NIPT test. I found out I was expecting twins in March, scan at 12 weeks found twin 2 with a 3.1 mm NT. We were sent to foetal medicine after a blood test— was told 1 in 5 chance of downs etc. I couldn’t NIPT as it was twins. I was booked for amio but we found we had miscarried . I’m now 27 weeks with the remaining twin who I’ve got the all clear on her health. What I’m saying is find out what you are up against before you have to make any decisions. I found the statistics very pumped up... until you know it’s just a chance.

Bordesleyhills · 28/07/2022 20:42

The waiting is the worst part all I can say is lots of us have been there- some have good and others have not so good outcomes. Take care of yourself and insist a foetal medicine scan. Get an expert to look

Dowisetrepla · 28/07/2022 20:49

I’ve also had this experience and the appointments are very overwhelming, it’s hard to take everything in. It sounds like you’ve had a pretty crap consultant as well.

The NIPT (blood test) isn’t diagnostic but it will give you much more accurate odds of some of the main conditions.

I had a very high NT measurement and was advised the NIPT was fairly pointless and it was best to go straight to CVS to get a straight yes/no diagnosis for the main conditions. Comes with a miscarriage risk. The amniocentesis has a lower miscarriage risk but this can’t be carried out until 16 weeks.

It’s stressful and confusing so just take your time and research your options, you can speak to the charity ARC (antenatal results and choices) and they can walk you through your options and listen with no judgement.

Ultimately we learned our baby had a serious health condition plus a heart issue, and was in fact incompatible with life. The way the consultant (kindly and gently) described the baby’s symptoms and condition also made me feel that it was already suffering, which additionally contributed to our decision to terminate - it is the most difficult thing we have ever been through but ultimately I believe it was the right thing for all of us.

PorridgeGoneWrong · 28/07/2022 20:51

A bit dry...but maybe worth a read:

www.ncbi.nlm.nih.gov/pmc/articles/PMC3681077/

An NT of 3.5 mm or more should be considered significant and warrants further investigations by serum markers, depending upon the gestational age.

Patients should be counseled for increased risk of fetal loss before embarking upon any invasive manipulation.

Fetal outcome is favorable in the absence of any identified abnormalities and with resolution of NT thickening in the progressive scans.

sweetheartyparty · 28/07/2022 20:57

I had a TMFR 8 years ago. Our baby had a nuchal fold thickness of 6.3mm but also had short femurs and undersized jaw. Downs was mentioned but no one said we should terminate. We got a fetal medicine appointment very soon afterwards and we had a scan and was offered to a cvs to see if our baby had one of the trisomies. The baby also had a very narrow thorax but the cvs couldn't find what was wrong. We were then offered a termination as the narrow thorax meant the baby's lungs would never develop. We went ahead with it. We got a diagnosis at the autopsy.
They should never offer you a termination on nuchal thickness alone. Ask for a cvs and a detailed scan at a fetal medicine unit. They can't expect you to make the decision without this.
I'm so sorry you are going through this. Please feel free to message me

RorysMamma · 28/07/2022 22:47

Thank you everyone. I honestly left their feeling like there was no hope. And the baby looked so happy and active aside from the neck. They did give me the number for the genetic specialist midwives maybe i should call them. It was obvious the midwife in the room wasn't a fan of the consultant either. Termination is an absolute last resort for us, only if its the kindest thing for the baby if it can't survive. I don't know how I'd be able to move on after terminating, its not something I've ever considered. The consultant was such a sweary word of a man, kept talking to my husband instead of me because I was upset. I'll wait to hear the result from him then maybe put in a complaint or ask to move to another hospital (we have 3 options, the one in our healthboard area is actually furthest away from where we live so the other two health board area hospitals are closer. I am cautious of hope because he made me feel like there is none but I just hate how pro termination it all felt, "Okay the scan isn't perfect, you could terminate". I want this baby so much. We wouldn't try again, my health has been a farce with my last pregnancy and again now and our fertility issues and my age. I'll try calling ARC, hope they can help and just have to get through the waiting for the results

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MabelTheCow · 28/07/2022 22:58

So sorry you’re going through this. We have a very very high NT measurement (9mm) and chose the NIPT as it’s incredibly reliable. We’ve come back with lower chance for 3 trisomies but are very aware there is lots that could still be wrong. Our baby is measuring very small but resolved the NT issue independently by 18 weeks which is a good sign and has no obvious anatomical markers. Our local hospital and fetal cardiology at the Evelina have been incredible. They quote the longest times but often results can come back sooner.

gunnersgold · 29/07/2022 07:07

I really don't think you need to complain , he gave you the facts and I think you have them all muddled because of the situation

I have done all this and it usually goes
Have scan at 12 weeks as normal
Get bloods
If something is off they refer you fetal medicine where they talk through your options
You can have a cvs and then you can decided about what you do .
You can not have that and risk it and see how the baby is

The thing is that they don't have a crystal ball . I had a cvs and was told my son was fine and he isn't so I imagine this has happened a few times and they have been sued ...

In my experience he thinks the baby has an issue but doesn't have any facts yet , just a gut feeling ..

If I were you I would have all the tests they offer and then make a decision .

Life with a child with SN is incredibly hard and my son isn't anywhere near as bad as some ..

Sorry if I sound direct but please don't blame the doctor who is passing on the information albeit directly .

SurpriseSurprise · 29/07/2022 07:20

It sounds as if the consultant needs to work on his bedside manner a bit.

Have you got a date for your private tests?

cestlavielife · 29/07/2022 09:37

You can ask yourself
Would you prefer to have a baby regardless of issues vs no baby?
Any baby however perfect prenatally can go on to have issues
It is a lottery
Knowing before can help prepare

cestlavielife · 29/07/2022 09:38

To have "this" baby regardless

SylvanianFrenemies · 29/07/2022 09:41

Sorry you are going through thus, and had such a crappy consultation.

I can thoroughly recommend the ARC-UK helpline for information and a listening ear. They are unbiased and non judgemental (and kind!) and can help you understand all the different tests and possible outcomes.

RorysMamma · 31/07/2022 00:10

I do appreciate your feedback but the consultant was completely inappropriate, my husband heard it all too and I didn't muddle anything up, maybe I didn't type it out here well enough / clearly enough. He actually shushed me when I dared to ask a question. I caught the genetic midwife roll her eyes at him at one point too. He also didn't even look at my scan or talk to the sonographer so all he knew was the measurement and my age so I'm not sure what other information he could have to base things on. I'm older and can handle it but he was patronising and called me "young lady", at nearly 40 years old that is not okay. The sonographer did tell me positives like that the brain looked as it should and the skull was formed correctly. We have friends with a child with down syndrome and others with children with ASD so I do know how hard to be, although I haven't lived it I do see how challenging it is, how tired they are and how much they struggle.

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RorysMamma · 31/07/2022 00:11

Thanks, I keep trying to get the chance to call but haven't. Will try this week. So many people have said they're great

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jmm499 · 31/07/2022 19:06

Hi @RorysMamma - you poor thing going through such worry and receiving what sounds like a bad experience with the consultant :(

I have a story of hope to share. Our youngest had an NT of 4.7mm at 12 week scan, no other concerns. We were told it could be something or nothing…with his NT the size it was, there was a 50% chance all was ‘normal’, 30% chance there was something chromosomal and 20% chance of a cardiac issue. We had a low risk NIPT which gave a lot of relief but I still had concerns there might be something else going on chromosome wise. We eventually came to the decision that an amnio was the right decision for us. A CVS wasn’t possible because of the placenta location and tbh it didn’t feel like the right decision at that time. A couple of weeks later I woke one day and knew an amnio was the right decision for us. It was a pregnancy after secondary infertility and 2 miscarriages - I decided to pay for a private amnio with Prof Nicolaides because of his reputation. He was absolutely wonderful.
Although in hindsight, the competence of many other consultants would of course have been fine - I was just in such an anxious state. I think the main thing is to find a consultant that you trust and feel comfortable with (I had had the experience of an unsympathetic one at the CVS appt).

Anyway, the amnio was clear and the high NT had revolved itself by 16 weeks when it was done. We then had a normal 20 wk scan and cardiac scan and our boy arrived safe and well at full term.

It was such a difficult time, I remember the agony so well. The waiting is torturous. Sending you love and really hope you have a happy outcome. You will know the right decision for you in terms of antenatal testing. Here any time if you want to chat x

milkshakeandchips5 · 31/07/2022 19:22

Hi!

Another story of hope albeit cautiously. Our baby had a NT of 6.9mm and what they thought were hydrops at our first scan. I was on my own because of covid and it was awful. The sonographer had no idea what to say and sent me on my way to get bloods, the receptionist shouted at me in front of a room of heavily pregnant women because I was crying and couldn't get my words out and they took the wrong bloods. I actually got a call the following day from the head midwife as another patient had complained on my behalf it was so bad.

Anyhow, we were referred to fetal medicine for further tests and they were incredible. Kind, informative and supportive. We had a CVS within 48 hours (given the high NT) as well as multiple scans at the same time. The sonographer was able to tell us early on that he saw no obvious physical deformities. Our CVS was negative but we stayed under the care of fetal medicine until week 32 with regular scans, a detailed heart scan and general consultant care.

My daughter is one now and healthy from what we can tell.

It was a horrendous time. We were told at our first appt that we had less than 5% of a healthy baby and handed termination leaflets. Being referred to fetal medicine under the care of people who were expert in this area was an absolute game changer for me and I couldn't recommend it more.

RorysMamma · 01/08/2022 00:21

@jmm499 thanks for taking the time to reply. It's nice to hear happy outcomes. The odds they gave us were worse, 50/50 for chromosomal, 30% change of heart defects and 15-20% chance of things being ok. I'm guessing it's due to my age, I know 38 is old for being pregnant although I have several older friends who have had healthy babies and were older than I am now. Maybe it's just luck. I'm leaning towards an amnio but thinking of going private as I really don't want that horrible, sexist, patronising man anywhere near me or to deliver any news to me, good or bad. I have a horrible sinking feeling that this just isn't going to turn out okay and the waiting is just awful. I'm so annoyed at myself for telling my wee boy about the baby, after the first scan and by the time i was 11 weeks i was excited and he's been desperate for a sibling so I told him. He's only 3, I don't know what to tell him if it all goes wrong 😔

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RorysMamma · 01/08/2022 00:27

@milkshakeandchips5 that sounds awful, I'm so sorry you had to go through that but so glad things got better for you and you got the treatment you deserve. I'm a bit confused about the CVS versus amnio, I've read things saying it can only be done up to 11 weeks but then others saying they had it much later. I know there's a 1% chance of miscarriage from an amnio but need to read more on cvs. I'll look into whether fetal medicine is an option, it sounds like it made a big difference to you and the care you received. I'm so glad you got a happy healthy little one out of this. I have a horrible sinking feeling that its just not going to be a happy outcome for us, I think because of how quickly the sonographer asked the down syndrome testing question. I guess we'll just have to wait and see what the NIPT says. Thanks for your reply and support

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RorysMamma · 01/08/2022 00:30

@SurpriseSurprise results should be this thurday or friday, they took bloods for me there and we posted it off. No other tests scheduled as yet, just wait and see. Apparently the consultant will email me the results but he's on annual leave so I'm hoping it'll be someone else and not that I'll have to wait until he returns

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milkshakeandchips5 · 01/08/2022 06:15

@RorysMamma CVS takes a sample from the placenta vs. amino which takes the sample from amniotic fluid. The risk of miscarriage is very slightly higher with CVS but it is statistically insignificant. Rightly or wrongly, the advice fetal medicine gave to us was typically if these tests result in miscarriage, there were other challenges at play contributing to the final outcome. Personally, I craved clarity and answers (as much as possible). The waiting between each stage was excruciating so please be kind to yourself as you live the experience. Stay busy but it's okay to check out every so often.