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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.

OP posts:
jmm499 · 02/08/2022 15:13

Wishing you all the very best @RorysMamma, will keep everything crossed for you xxx

HerkyBaby · 02/08/2022 15:24

A friend of mine received some badly delivered and bleak news in an early pregnancy via the NHS.
she then went private to the Foetal Medicine Centre in London .It did not cost the earth and an appointment arranged swiftly due to the circumstances.
Facts were explained very carefully and clearly after a very careful and thorough examination. They were then able to make a much more informed decision about the pregnancy.
if you are able to do this then I highly recommend it .

RorysMamma · 02/08/2022 16:52

@HerkyBaby I called ARC and they recommended trying to get refered to fetal medicine. We're in Scotland and there's the fetal medicine unit for Scotland at the Queen Elizabeth hospital in Glasgow. Need to look into what's available privately in our area and see. We also have the option of changing hospitals, where we are our own healthboard hospital is actually the furthest away of the the 3 options (which you don't want when in labour) so I chose the closest, in a different healthboard area where I had my son. It's all a bit confusing

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millymae · 02/08/2022 17:51

I am so sorry you are going through this and have fingers and toes crossed that like others who have posted on here who have had similar 12 week scans everything turns out to be fine.
There can be no excuses for the attitude of the Consultant you saw and if it were me I'd not want to set eyes on him again. Although it's never an easy job giving what could be bad news to patients whilst still presenting the facts it does come with the territory of being a Consultant and by the sound of things he could have done it so much more kindly.
When I first started work there were plenty of senior doctors around ( not all of them of course) who felt they could be as rude as they wanted and liked to give the impression that they could never be wrong. As they've retired I thought those days has gone but it would appear that there are still some of them around who could do with attending one of the many communication courses that available.

RorysMamma · 03/08/2022 14:03

Thank you everyone. We got the NIPT results today and it's good news, it came back as low risk. I know there's still risks and potential challenges ahead but our odds just improved significantly.

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jmm499 · 03/08/2022 15:39

@RorysMamma so happy to hear this! I know the feeling of not being able to completely relax but like you say, this is great news to have. Will keep holding you in my thoughts xxx

Lynsey834 · 13/12/2022 10:12

I just wanted to say thank you everyone. Despite high NT and many tests and scans they couldn't find anything 'not right' with our baby. Currently 1 day shy if 32 weeks pregnant and he's on target to be between 8.5 and 9lbs. Hoping this info gives someone else hope. Obviously we won't know for sure until he's here but everything looks positive

paintitallover · 13/12/2022 11:35

Lovely! I hope it all goes well for you.

jmm499 · 13/12/2022 15:20

Aww that’s great news, wishing you all the very best! X

LaviniaKovacs · 25/12/2022 10:26

Hi! I have the same problem as you. I was diagnosed with underactive thyroid 2 years ago. Before I was getting pregnant I was on 25mcg Levothyroxine. I found out at 5 weeks that I am pregnant so I went private to an endocrinologist to have blood test and to increase my dose. My first blood appointment was showing the levels very low so they increased the dose to 75mcg. I was yesterday to a reassurance early scan. The doctor said everything is fine but the Nuchal Translucency was too high for his age 3.3mm and could be a sign for DS and other abnormalities. He said he cannot be 100% sure because my bladder was not full and is too early now. I am totally devastated! Is my first child and I struggled to conceive.

LaviniaKovacs · 25/12/2022 10:26

Hello! I was diagnosed with underactive thyroid 2 years ago. Before I was getting pregnant I was on 25mcg Levothyroxine. I found out at 5 weeks that I am pregnant so I went private to an endocrinologist to have blood test and to increase my dose. My first blood appointment was showing the levels very low so they increased the dose to 75mcg. I was yesterday to a reassurance early scan. The doctor said everything is fine but the Nuchal Translucency was too high for his age 3.3mm and could be a sign for DS and other abnormalities. He said he cannot be 100% sure because my bladder was not full and is too early now. I am totally devastated! Is my first child and I struggled to conceive.

Lynsey834 · 30/12/2022 21:36

I'm so sorry you're dealing with this. You can get a test on your blood to check for the liklihood of chromosomal issues at 12 weeks, we did it and came back low risk for the 3 biggies. We struggled to conceive with our first two because i didn't ovulate due to my thyroid. Oddly that problem fixed itself after giving birth to our first. Fingers crossed all is ok with your little one too x

86Shropshire · 15/03/2023 11:51

hi @gunnersgold I hope you don't mind me replying so much time later than this thread was originally posted but I wanted to ask you if your son had any other soft markers that alerted you that there could have been SN issues after his birth.

The reason I am interested is that I am currently pregnant and the baby had an NT of 3.7 at 12 weeks but then I went on to have had a clear NIPT and at 16 weeks at my Amnio app the NT had resolved itself and no other issues are apparent. My microarray results have come back clear too. I am now waiting on my 20-week anomaly and cardio scan which take place next week. If all these are clear I need to decide if I feel confident going ahead but your words of warning are concerning so would love to hear more if you'd be prepared to share it? Thank you in advance! x

boboshmobo · 15/03/2023 14:49

@86Shropshire have pm you

Natalierosex · 11/08/2023 12:50

@86Shropshire do you have any updates ? X

86Shropshire · 01/01/2024 10:34

Hello everyone, so sorry for such a delayed reply. Our baby girl arrived via planned C-Section like last time and everything was fine.

After numerous tests and results from amniocentesis, bloods, CGH Array to numerous scans to WGS which all came back clear (apart from the continued raised nuchal) she arrived healthy.

The amazing team at St Mary's led by the incredible Dr Lakasing meant they were ready in case of any issues. Fortunately there weren't any and I just felt such relief after almost 9 months of stress and anxiety.

RorysMamma · 01/01/2024 14:08

I'm so happy for you x

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