Scary NT scan results Help!

[Kay11]

Hi all. On Monday we had our NT scan (11 weeks + 4). We were advised that there was a nucal thickness of 3.5mm and possible cystic hygroma = a possibility of Turners Syndrome or Downs syndrome. The blood screening results have not yet returned but they felt a possible 1:30 chance. We were mortified as we have a perfect 13 month old beautiful daughter already, the pregnancy so far has been great and i?m only 31 years old... so we never imagined anything could be wrong! They arranged for a CVS which i had yesterday. It wasn?t as painful as i thought it would be! The team were great but the consultant gave us even worse news... he thinks there is more chance that the baby has either Trisomy 13 or 18. We were totally devistated! The first results hopefully will arrive Monday but as you can imagine i?m going out of my mind waiting and hoping for a normal result.
Has anyone had this scare, but a good outcome?
Thank you

Sorry you are going through this. I have no experience of what you are going through specifically but there will be ladies on here who may be along soon to give some info or advice. I didn't want to leave your post hanging.

I know Monday is a long way off but at least you will have some answers then.

Dear Kay

I'm so sorry to hear of your news. I'm a fair bit older than you but after an easy first pregnancy with DS I never expected any problems 2nd time around, esp as we'd had good odds with him. It wasn't to be for us though - our hosp by that time didn't do routine nuchal scans but at the booking appointment scan very obvious abnormalities were apparent, and I had a cvs that day which confirmed patau's. I found it helpful to speak to ARC and they recommended one of their volunteers who is also with SOFT UK (supports families who've had diagnosis of T13 or T18). I'd really recommend speaking to either or both organisations, they were very understanding. One thing they said which helped was that you DON'T have to rush into doing anything. Given our DD's condition (which included severe brain development problems) we felt fairly early that ending the pregnancy would be best for her and for us (my DS included), however we took a couple of weeks to make our final decision - and carrying her consciously during that time was both very sad but also nice, as we did things like a day-trip to the beach so I remember her being with us on that day. We actually waited for our full CVS results as I wanted to be absolutely sure it wasn't partial trisomy (which has a better outcome) - it wasn't. But again, losing ALL hope in this way made us more certain in our decision to end the pregnancy. As it was, I was scanned the day before I had booked in and she had already died.

So, my story did not have a good outcome; but even in this circumstance there are things you can do and ways you can cope and find to spend time with your baby that in a way makes it a precious time to remember. I hope this post makes sense, I'm writing in a bit of a hurry and it's a long post; I really hope things do turn out better for you but there is a lot of support out there if you need it. xx

Hi,

I am sorry to hear about the scary nuchal. I know how it feels - I had a nuchal thickness of 8.8mm and cystic hygroma at a NT scan in 2008. Went back to have CVS and by then the thickness was over 10mm... I was 12 weeks, and had just turned 33, and had a healthy 1 year old. It was clear that the baby couldn't survive, however - which is VERY different from your case. 1 in 30 sounds like awful odds but it does suggest that 29 out of 30 is the chance all is okay. My baby had Turners syndrome - which is not always life-threatening and can be quite mild - but in my baby's case clearly wasn't.

I have researched the nuchal thickness quite a lot... 3.5mm isnt that high, in fact. And your bloods might reduce your risk. I read many cases of women with raised nuchal measurements whose babies turned out to have no chromosomal problems at all.

But I do understand the worry and particularly of trisomies 18 and 13. I hope someone comes along who had a similar nuchal result and had a baby without chromosomal abnormalities - there are many such women, honestly, if you google.

Good luck, and I really hope this works out for you. Let us know.

Kay - re-reading my post I think I should have said that having NOT had a nuchal scan, I have no idea what my odds would have been and as Can't says, there are babies with raised nuchal fold and/or mums who are given stats the same or worse than yours, and things have been fine. I think you have done the right thing in having a CVS in this situation, and I really hope in your case the outcome is good. Do speak to ARC though; they are very helpful and as it is so hard to talk to others in RL about this, it is good to speak to someone else who is informed and supportive. xx

Hi Kay - We were given a 1:13 odds with our first DD. I was mortified and convinced it meant bad news. The only thing that kept me going was that we were told of a couple who were given a 1 in 2 chance and had just got the all clear. We got the all clear too from the CVS test and also had to have two heart scans which came back clear too and all was well. I really hope you get some good news on Mon. Hang in there xx

Hi Kay,

In my last pregnancy (have 8 week old healthy daughter now) the NT measured 3.0mm; not quite as high as yours, I know, but the sonographer told me that not long before, one of the radiologists there had a reading of 3.6mm for their NT, and all was fine. I know Monday probably seems like an eternity. Can you try to organise to do something with your daughter & DP this weekend to keep your mind occupied? I know it's hard, but nothing you do now is going to change Mondays results, so try, try not to worry yourself sick. And I would also say don't google all weekend, but that really would be the pot calling the kettle black.

Wishing you all the best with the results. Keep us posted. And until then, we are listening if you do need to offload xx

Hi Kay,

We had a CVS a few weeks ago based on the results of our combined nuchal fold and blood test. We were given a risk factor of 1 in 5 and the results turned out OK.

It wasn't exactly the same as your situation (the measurement, my age etc). However I do know that it was an absolutely awful anxious time time and I will be thinking about you this weekend. My son helped me take my mind off it a little bit and I hope your daughter will help take your attention too.

Hi Kay,

I hope this gives you some hope and reassurance. I went for my 12 week scan and was told I had a nuchal fold of 5.2mm therefore indicating a high risk of downs syndrome or other chromosone defects. I therefore had a CVS, they could not get a result on the first test they did, they therefore run another test which came back and everything was OK, no chromosone defects and I was expecting a baby boy. I had another scan at 16 weeks to keep a check and was referred to Leeds General Infirmary at 20 weeks for a Fetal Echocardiogram (a scan of the baby's heart) which is another indiator of the nuchal fold, this turned out to be fine too. I gave birth a a healthy baby boy on 1st November 2009 who's now a strapping 15lb 7oz. I know they have to do these tests and they put the fear of god in you when you have your scans and they pick something up. Please stay hopeful and good luck. PS. I was 39 years old at the time.

Hi Kay,

I hope that all went well wiht the results and wish we hear from you soon.

My NS had a thickness of 3.9 mm. All turned out well. I have a 9 week old healthy baby girl.

However in my first pregnancy I had a thickness of 2.6mm and the outcome was not good, devastating really.

I dont believe so much in numbers anymore. It is all there to worry us really. Until the final results come back they are just indications.

I really really feel for all women who go through this. having to wait ... and worry. I cried my eyes out when I was there.

Hugs to all
G

im also waiting for results my nuchal was 6mm which i think i also bigger than average a full body scan of the baby was done and all the major ogans was classed as normal but there was a little hernia seen . finally the numbers were 1:614 for downs and 1:2 for trisomy im so scared and upset all this waiting is so hard i dnt want to even touch my stomach or do anythin to do with babies as im scared it will come out that the baby will not survive what do i do?

Hi mummimaybe19 I'm waiting for a CVS result after a NH of 6.9mm. It's so nerve-wracking as some minutes you can forget it and other times you just want to scream and pound the walls. I hope you have a lot of people you can call on, my family have been so helpful, there's also a charity called ARC who deal with people who are going through this.
I have my fingers crossed for you (and me)

I'm crossing my fingers for both of you too - i've been through this too so i know how horrible the waiting is. hoping and praying you get good news xxx

Crossing my fingers for you both.

I have a dd (9 almost 10) who has Turner's Syndrome. I had no 12 week scan so had no idea.

In fact i had no idea until 2 years ago when she was recognosed as being short for her age. I had a nagging suspicion for years that something was not right.

She is perfectly healthy and is having Growth Hormones for her height issues.

Whatever the outcome i wish you good luck. Please find me if you need to ask any questions. I will keep checking back

Hello, got the results of my cvs and was told bean had edwards syndrome.
I feel like the bottom has dropped out of my world. I'm trying to stay normal but I also want to smack the next person who asks if I'm okay.

I really hope you get some good news mummimaybe19, fingers still crossed for you.

Tiny I'm sorry to hear your news - and how could anyone even think to ask if you're OK in this situation, when OK implies that it's all fine? Very obviously everything is not fine; and it's a horrible place to be in. When we got our news, I took 2 weeks off work as I needed the space and no way could I have functioned (my work was really great). I got support from ARC and SOFT UK (support for T13 and T18 diagnosis) and also as I began to make my decision about what to do, a lot of support and practical info from the ladies on this thread. It really helps to talk to someone who understands your need to know more info, but also how absolutely floored you feel. Take the time you need and do what you can to help make it manageable, as I said earlier in this thread we actually had a family trip to the beach, partly as with having a 2yo life just has to go on, but also it has become a treasured memory knowing that my DD was still with us then, even though not for much longer.

Again, I'm so sorry to hear your news. xx

So sorry Tiny.

So sorry to hear your news. You must be devastated.

Hi Kay11, speaking from a recent positive experience. I'm an older first time mum and opted to have the nuchal scan only and not any bloods. My nuchal was 3.9 mm and with my age I was given a 1:4 chance of downs. The consultant wasn't that friendly I have to say and scared the life out of me.

Had a CVS a couple of days later and the waiting is the worst thing. The actual procedure wasn't too awful, just uncomfortable - 3 days later the first set of results for Downs, Pataus and Edwards all came back clear, then the waiting starts again as had to wait a further 2 weeks to get the full chromosomal results, which thankfully all came back normal.

After this scare, it has made me worried about what will happen next, will my baby be OK. Got my 20 week scan in a week and just want all to be fine so that I can try to enjoy the rest of my pregnancy.

Keep positive, keep hoping and find out all the information you can. Fingers crossed for all you mums out there who are going through this ordeal

Hi Mellymels71

I am in a similar situation to you in that we have a clear chromosomal result but the high NT measurement (which we were told was a cystic hygroma measuring 3.6mm). I am awaiting my 20 week scan with a heavy heart and just wondered if you wouldn't mind posting how your story turned out?

I have read so many blogs etc about NT etc, but there are not many follow up stories. If you have time, I would love to hear the results...

i am 26 with two healthy boys. We went into our 12 week ultrasound thinking everything would be perfect . Straight away the sonographer said she didnt like what she was seeing. The baby has a NT of 10mm!!! This is more than I have read anywhere else on any site. The baby also has slight fluid all around its body, not just behind the neck. We opted for a CVS (ouch) and the quick initial test has come back normal (not down, trisomy 13, 18 or Turners). We have to wait two weeks for the final full results. We are going back in three weeks for the full antamony scan which will tell us more. The sonographer couldnt get a good picture of the heart - she said this could be the age of the baby, position etc, or it could be that it is not strong. Any ideas??? My blood work was normal.

Hi, the stories here sound fairly similar to what me and my wife are going through at the moment. We are both young 25/26 and this is our first baby. We had a scan yesterday at 11w 3d and the NT measurement was 3.8mm at first and a second scan later that day revealed a 3.66mm NT. Everything else appears normal and there was a nasal bone seen. But its hard to stay positive when your chance of a healthy baby falls dramatically, although our chances of eveything being fine are 80% its still extremely worrying, we have opted not to go for CVS but will have the amnio at 16weeks. Since yesterday I haven't stopped reading others experiences and it gives me hope that its ok. But I can't find anywhere where someone has had a high NT but the nasal bone was seen. Does this mean there is a higher chance thats its a heart problem over chromosomal? Its all getting very overwhelming! Just want to talk about it really.

Sorry to hear your news Ziggy. I'm afraid I had a bad result. My baby had a nasal bone and had downs. the NT was 6 or 7mm and there were hydrops. i'm not sure your NT was soo high. Do you know what your bloods were? The chances are defined by both bloods and the NT not just the NT alone and there are plenty of positive outcomes for babies with NT like yours.

80% is very hopeful IMO. Why aren't you having CVS? I had it and it can be done earlier so you don't have to wait so long. i think possible miscarriage rates are the same.

I hope everything goes well for you.

Thanks for the reply Manitz, sorry to hear that.

We opted out of CVS because there is a higher chance of it being ok than not so,we didnt want to risk anything. Plus we don't live on the UK mainland and would have to fly over to a hospital there to have the procedure. It would just be too stressful.

I'm not sure of the bloodwork, it wasn't explained very well to us. I know we are having the double test(?) soon and are booked in for the amnio in 4 weeks time. I also realise that the double test can come out as a false positive fairly often, but it would be put our mind at ease knowing what we are dealing with bad or good, its the not knowing thats the worst.

Sorry I don't know what a double test is. Completely understand that you wouldn't want to travel to the mainland for a test as that would add so much extra stress. i recommend taking up knitting or a box set to help with the waiting. We watched the wire.

Hope everything is not too stressful for you both
take care.

ziggy I had a NT of 3.4 with a nasal bone present and so far at 24 wks there are no issues.

I had the CVS which gave me the all clear for chromosomal abnormalities and I have had a very thorough consultant scan at 22 weeks and the heart and other organs are all seemingly OK. I am being scanned again at 28 weeks to check growth progress and whether a cyst on the babies brain (which is apparently harmless) has disapeared which it should have.

I'm afraid I don't know anything about the blood work - I went straight for the CVS as my DS2 had Downs so I was at a high risk anyway.

Best of luck.