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NT count of 6mm. Also mentioned cysts? Scared and confused

(30 Posts)
shedandheidi Thu 06-Dec-18 16:57:13

Hi,
I can't find anything recent on this, so started thread here. Please let me know if I shouldn't have*
I had my 12 week scan today and it was not pleasant to say the least. I struggled to keep tears back.
Anyway I have just turned 40, this is a first pregnancy and baby was dated 13 weeks. So far everything has been going well, So I thought..
The sonographer began really positive and was laughing at my baby with it's little legs crossed. She then abruptly stopped, apologised and went to get someone.
To cut a long story short the baby's is nuchal measuring 6 mm and notes say this is suggestive of a cystic hygroma. I'm sure cysts on the nuchal were also mentioned. I am due back tomorrow for a test that will shed more light, I can't remember the name but they take a little from the placenta. It takes 2 weeks to get the results, I don't know if I can wait that long, but needs must.
I am a realist so I'm not expecting heartwarming stories but can anyone shed any light for me? All of this is something I know little about.

Beyondhope Thu 06-Dec-18 20:04:53

Hello. Your post sounds very familiar to one I started this time last year. I went for my 12 week scan (after 3 good early scans due to being under the recurrent miscarriage clinic) and by baby boy had a NT of 5.7mm. We were told he had a cystic hygroma from half way down his head all the way to his tail bone. It was clearly visible on the scan.

I presume the test you are having is the CVS. I had this also. You should get some results within a few days ie. whether your baby has Downs or Edwards and further results within 2 weeks.

Unfortunately for us it was bad news and we made the heartbreaking decision to end the pregnancy. The waiting is horrible. I am here if you want to talk. I have been exactly where you are. flowers

shedandheidi Thu 06-Dec-18 20:14:38

Beyondhope, I am so sorry for what you went through. Thanks so much for replying. I will keep you informed, right now 2 weeks seems an eternity, but I will let you know. It's so nice (if that's the right word) to have found someone who has been here x

Beyondhope Thu 06-Dec-18 22:27:47

It really helped me to speak to other people who had been in the same situation. I felt so alone at the time. I will have everything crossed for you.

Otto8 Fri 07-Dec-18 21:14:58

Hey, reading your post and I was you in July this year. Scan was going well until at the end the sonography said a measurement was more than they would expect .... 6mm NT. The report also mentioned hydrops and Cystic hygroma.
We were lucky to get offered harmony test the same day and CVS the following day and by Friday the basic CVS result came back positive for Edwards. Harmony came back inconclusive.
Worst time of my life and we ended the pregnancy at 13.3. My risk of Edwards was 1:1306 apparently so was just the unlucky one. Thinking of you x

Chardeemacdennis1 Fri 07-Dec-18 21:33:28

Hi. I've been there too. 12 week scan told nt mesurment over the normal range, can't remeber by how much. Diagnosed with a cystic hygroma. We had cvs the following week and then result back the week after.

We were told at the scan that we had 50% chance of a chromosome abnormality such as downs, 25% of "structural abnormalities" which apparently means heart or brain defects or somthing like that or a 25% chance of a healthy normal baby.

Our cvs came back clear. So we thought we were one of the lucky ones and so we continued with the pregnancy.

Turns out ds actually had a rare genetic syndrome. We wern't told about genetic syndromes we assumed the cvs ruled them out but it only actually rules out chromosome abnormalities.

It's been hard but he's two now and he's actually a joy to have. He's got his problems but he's actually doing pretty well.

shedandheidi Fri 07-Dec-18 22:42:44

Otto8, I am so sorry to hear that and I feel for you. I had my cvs today, I saw the little one move. It was lovely for a moment then reality hit. Knowing why I was there was heartbreaking. I would have loved the Harmony test but couldn't afford it, so now I get to spend the weekend waiting for the initial results on Monday, then another fortnight for the rest. Thank you for replying, it's good to know and I guess be prepared. I honestly had not heard of anyone going through this before yesterday. Again so, so sorry for what happened to you, but thank you for being so open x
Chardeenmacdennis, thanks to you too. I am delighted that you had your little boy and that he is doing well. Congratulations. I was thinking about the initial results on Monday, but I guess the genetic tests are just as important and in your case did not reveal anything informative. If you don't mind me asking, the genetic condition, will it impact your little one severely? I would be like you and the child would be a blessing, but it's still good to know possible outcomes esp those that don't register on the tests is preparation.
I kind of blame myself for this I was 39 about to turn 40 when I discovered I was pregnant. It was something I had thought would never happen and a huge shock. It took me a few weeks to come to terms with being pregnant and the array of feelings I felt at the time were not always positive. I was so ungrateful and now it seems I want the little one more than anything and it's too late.
Finally I am pretty much alone in this, my partner on confirmation of pregnancy wanted 'all or nothing'. When I said I was happy the way things were he walked. I haven't heard from him since. That was 8 weeks ago. I am in a new city, new job and bar 2 family members I don't know anyone. I will admit I couldn't even find the hospital yesterday so I had to leave 2 hrs early to ensure I made it on time. In short I appreciate your feedback so much, as without it I really would be on my todd. Thanks so much and I will repost on Monday to let you know the first results.

Otto8 Sat 08-Dec-18 06:07:34

Shed, I was 38 and blamed myself as well to start with. it was also unplanned and I felt devastated when I got the positive pregnancy test and actually felt quite down for a few weeks. I guess looking back it just never felt right, I wonder if there is mother’s instinct there and I knew he was poorly.
But then seeing him on the screen made it all real and wonderful and I felt the same as you, and so wanted him to be healthy.... I felt I got my punishment when I had to abort.
The midwives and consultants said they see this affecting mothers of any age and that it was very unlikely and bad luck.

I am sorry you don’t have any one to support you right now. We were waiting till after the scan and results to announce our pregnancy so I felt very alone too. Luckily I have my husband to support me, though he preferred not to talk about it (we later had some counselling which helped a bit). It’s strange because a lot of my friends do not know and I have only since told a few close friends and it’s been such a massive thing for me but I’m quite a private person.
Have you told the 2 family members? It’s a lot to cope with on your own. I remember the agony of waiting for results and hope you get good news on Monday x

Chardeemacdennis1 Sat 08-Dec-18 10:01:52

Please don't blame yourself. I spent such along time beating myself up and its pointless. It doesn't change anything and it's not your fault, it's just by chance these things happen.

So my sons condition is quite varied from child to child. Some just have autism, some are on breathing tubes and in and out of hospital. His main issues are development delays and low muscle tone, but he does have lots of other issue, they're mostly small problems like long sighted and undecended testicles but it all adds up. His physical development will catch up but mentally we're told the best we can hope for is borderline normal intelligence. It is life changing having a child with special needs, but we're lucky that his issues arn't more sever, in general he's pretty healthy, happy and content.

Petitprince Sat 08-Dec-18 10:16:54

We had similar, but they couldn't get a measurement, then very high risk on bloods too. We had the amnio, which came back clear and now have a healthy two year old. It was the hardest few weeks but sometimes there are positive results. Lots of love to you OP.

shedandheidi Sat 08-Dec-18 21:28:22

Thanks to all of you for being so informative. I have spent the day online, at times google has been my best friend and at others my worst enemy. I found so many positive stories but equally so many negative. To add to the mix I've found even more to worry about, for example the nasal bone? This is something I would never have thought of and now I'm obsessed. My print out ( they stopped the scan before I got a proper picture), clearly shows a nose, no mean feat considering I'm half African so many in my family have little flat noses. I'm now wondering would such a defined nose mean a nasal bone exists....
Anyway I have more to concern me in the grand scheme of things, I'm focusing on anything rather than the impending results.
Once again thanks so much and when I get the call I will let you all know either way.

SylvanianFrenemies Sun 09-Dec-18 11:53:05

Hi OP.

I'm in a similar position. I'm 41 and pregnancy with DC3. My scan on Friday showed a NT measurement of 4.8, plus some fluid, I think over the chest/abdomen. The scan was done by a sonographer, then by an obstetrician. I was given odds of 1/3 for a chromosomal abnormality, or 15% for cardiac or other structural abnormality. I have some health needs that create higher risk or cardiac abnormality, so am hoping that if anything it is a minor cardiac issue. Everyone medical seems so pessimistic though.

I was offered the CVS but have declined it for now, I had the Harmony test at a private clinic yesterday and hope to get the results this week.

Thinking of you, and hoping we get good news soon.

SylvanianFrenemies Sun 09-Dec-18 11:53:48

I know what you mean about Google! The good stories are so reassuring, but there are so many bad ones too. It's hard to make sense of it all.

shedandheidi Sun 09-Dec-18 12:31:59

SylvanianFrenemies, please let me know how you get on and pm me anytime x

SylvanianFrenemies Mon 10-Dec-18 07:03:24

Thanks sheandheidi, I will.

Chardeemacdennis1 Mon 10-Dec-18 09:44:20

Thinking of you today. Hope the news is good flowers

shedandheidi Mon 10-Dec-18 17:07:44

So I just found out the baby has downs. I'm in shock, they wanted my decision on options there and then but I can't think. Thanks for all your support, I really appreciate it xx

MerryGinmas Mon 10-Dec-18 17:15:34

flowers hand holding OP. I haven't been in your position but I couldn't read and run. It's wonderful news that your baby doesn't have Edwards nor Patau syndrome. Can they give you any idea about any associated health issues or lack thereof as highlighted in the scan?

Thinking of you X

shedandheidi Mon 10-Dec-18 17:22:02

Tbh, they were pushing for my decision. They did say they would support me whatever I decide and that if I do continue I'll need lots more tests. They gave me no other info

MerryGinmas Mon 10-Dec-18 17:48:47

I don't think that's very fair, it needs to sink in before you could even begin to think about decisions. Gentle hugs XXX

SylvanianFrenemies Mon 10-Dec-18 17:52:21

Don't let anyone rush you. You have to make the decision that's right for you. Might be worth contacting arc to see if there is some kind of telephone counselling/local support for you while you work through things.

Chardeemacdennis1 Mon 10-Dec-18 17:52:58

I'm so sorry @shedandheidi

Don't let them pressure you. Take your time to make your decision, follow your heart. flowers

Petitprince Mon 10-Dec-18 18:12:07

Sending you lots of love. I dreaded Edwards and Patau but felt that Down's was manageable. I have two friends who have gorgeous children with Down's so I had a bit more experience of it. Is there anyone you can talk to about it? Don't let anyone rush you.

I was shocked by how negative some doctors at the hospital were about Down's, and the things they talked to us about didn't match up with my friends' experiences, so it's worth doing some research.

Any diagnosis is obviously a shock so be gentle on yourself and take your time. There's loads of information here if it helps? www.downs-syndrome.org.uk/about/pre-natal-faqs/

Four4me Mon 10-Dec-18 18:17:47

So sorry that you have been through such a turbulent few days. The waiting is agony.

Don't be pressured to make a decision before you are absolutely sure. There is time.
It is a very individual situation and everyone in your position has to have time.

Neither decision is easy. And you will get lots of advice depending on each persons own life experience, which only makes it harder for you.

There are many many things that your baby could have been diagnosed with far worse than Downs, but I understand that nobody would choose to have a child with any additional needs (apart from those wonderful adoptive parents).

Here's my bit!!! My DS1 has Downs (shock birth diagnosis), I really struggled to come to terms with the news.
He is 15 now and we have three more DC. He is wonderful and an integral part of our family.
The others adore him.

He has gone all through mainstream school, swims 3x (1.5hr) a week with squads (I wish I could front crawl and tumble turn like him), canoed down the L'Ardeche with school for 8 days this summer.
He is academically behind his peers/siblings, I never thought I'd say this, but I honestly don't give a hoot.

What he brings to our lives far far out weighs the any disabilities he has. He has us roaring with laughter on a daily basis.

Most families in our situation, or with children with other disabilities you would find would never swop. It seems to have a life altering perspective change.

However, there are many reasons to consider when faced with the news today. And I would never judge anyone that decides that they couldn't continue with the pregnancy. A very difficult decision.

If you want to PM me I'm happy to answer any questions, the Downs Syndrome Association have tonnes of information on their website.

Sorry for the long message, but basically don't be pressured to make a definitive decision by the medics before you a ready. Take care xxx

Beyondhope Mon 10-Dec-18 19:35:58

Sending you lots of love. No one should be pressurising you to make a decision. Take all the time you need and ask the doctors all you need to. I’ve been in your shoes less than a year ago and I can remember clearly the utter heartbreak. You have support here. Thinking if you. flowers

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