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Nucal fold > 5mm and risk of DS 1:19

(52 Posts)
Endogirl Fri 15-Jul-11 10:14:56


I know this has been posted about lots but I could do with some help! We had our scan on Weds and the nucal fold was really thick and both blood hormones were very low. Had the CVS straight away. We're 12 + 2 weeks.

The consultant said there was a 25% chance of DS and if not DS then of the remaining 75% there was a 2/3 chance there would be other serious abnormalities.

Given choice of terminating now or waiting past the 14 week point where they would have to induce me if later scans confirmed abnormalities if CVS comes back normal.

Has anyone else been through this? Did you wait or terminate early? Were you induced early and is it simply too traumatic to go through?

Thanks in advance for your help ladies. Am in a complete panic.

mrsbigz Fri 15-Jul-11 11:38:30

hi, first of all i'm so so sorry that you are going through this - you are in the right place as many of us have been through similar situations. i guess a lot of what you're asking about depends on what you would do if the results came back badly.
my story is that we had a nuchal measurement of 7.4mm and with the bloods combined our ds risk was 1:5. my scan wasn't done until about 13+1 and once we'd got over the shock (and not knowing what we would actually do) we were too late for cvs, so had to wait for amnio at 15wks. in that time we chatted about what we would do if the results came back positive for ds or another chomosome abnormality. it was hard for us, as had it been our first child then a diagnosis of ds would not have been an issue, but this time around we had 2 boys aged 3 and 1 so had to think about the effects it would have on them. to cut a long story short our results confirmed ds. we then (still in shock) went on to have a cardioscan at oxford, and the outlook from that was quite bleak. the fluid on the neck by that time had spread from the head all the way down the babys back - which again was not a good sign - this was referred to as a cystic hygroma and suggested another lot of possible health problems. we took the heartbreaking decision to end the pregnancy and our baby girl was born at 17wks on the 30 march this year.

you should have the fast-track results back from your cvs quite quickly - did they say how long it would take? if you know you are going to end the pregnancy then from my point of view it would have been easier for me to end it earlier. however on the other side of the fence, in hindsight i'm glad that i had the opportunity to see and hold my little girl.

and to try not to be too bleak, there are also positive stories on here about high nuchal measurements coming back all clear. was it the nuchal, or the bloods that pushed your risk factor up so high? also age is a factor they take into consideration (i am 36 so that made my risk factor higher straight away).

sorry, i'm not sure if i've been much help. for what it's worth, this is the worst part about the whole process - the waiting for results. it's awful and please use these threads to talk as much as you want as there are lots of us on here who have had similar experiences. some of us had a termination earlier (like you mentioned) - misty - where are you - and can talk about that aspect of it from their point of view.

i hope that you're holding up ok and you know where we are xxxxxxxx

drivingmisscrazy Fri 15-Jul-11 12:38:48

oh you poor things - my DP and I have been where you are quite recently - a not brilliant nuchal measurement, plus a set of bad bloods, plus maternal age. But we had the cvs straight away, an agonising wait, but the baby was clear for chromosomal abnormalities, so you can have a positive outcome. But you will also find lots of good support (and good sense) on here if you don't. It's a very very difficult place to be and I hope you are holding up OK.

Endogirl Fri 15-Jul-11 12:45:26

Thanks so much for your reply. It really helps to hear what other people have been through (although I wouldn't wish this on anyone).

The results are due back between Monday and Weds next week so we're just in that terrible waiting period. We have no idea what we will do either way yet so are just waiting to get the results and will take it from there.

I waver between hoping that everything will turn out ok and then forcing myself to be realistic. Did you get to speak to a counsellor or anyone about the results?

I think the nuchal measurement was their main concern as they said the bloods were low but even without that they would've recommended the cvs. I'm also 36 so I don't think that helped either!

Thanks for being so honest about everything xxxxx

Endogirl Fri 15-Jul-11 13:02:59

Thanks for your reply too drivingmisscrazy. It's lovely to hear some good news. I hope everything is progressing well with the rest of your pregnancy after such a stressful start. xxxxxx

mrsbigz Fri 15-Jul-11 13:06:52

hi - the staff at the hospital (as soon as we had the initial scan we were sent down to prenatal diagnostics) were absolutely fantastic....from the minute we got our results, right through to the amnio, the decisions, the birth and he memorial service/burial we had. always there for a chat if we needed them. also i can't recommend ARC (Antenatal Results and Choices) highly enough - they are a charity and very knowledgeable about all things regarding what you're going through now. i think that you would certainly be offered support through your hospital in fact should have already? whereabouts are you based...?

manitz Fri 15-Jul-11 13:15:41

Hi Endogirl. I had a similar experience to mrsbigz - cystic hygroma and high nuchal and the baby had downs syndrome.
It is a really scary to be diagnosed but the unknown and anticipation is more scary than the process if you see what I mean. I wanted a surgical but it turned out that my hospital would not do one post 12 weeks (I was about 13 weeks).

I am really glad I gave birth and I felt it was more cathartic for me than being put to sleep and having stuff done to me and I did a lot of grieving during the birth which helped me move on afterwards.

I have now had two terminations for medical reasons and I was initially really concerned that I would have regrets. Obviously I have regrets that the babies were ill but none about the choice I made.

Personally I would want to investigate as much as possible prior to having a termination so I was sure about the decision I made.

I also have to say there are good stories even with odds like yours. xx

Endogirl Fri 15-Jul-11 14:22:02

Thanks ladies for all your support.

Manitz it's interesting to hear you've been through both situations (you poor thing) and come out the otherside. Personally if the cvs comes back as negative for DS then I want to keep going with the pregnancy until a scan can confirm that if there is something wrong. But my partner and family feel this may be just delaying the inevitable and are worried it would be more traumatic later on if the diagnosis is bad. I guess we just have to take it one step at a time.

Mrsbigz I'm at St Georges Hosp in Tooting in London. They were great during the cvs and my gp has come round to see me too so am being well supported. I was just wondering if a counsellor was a good option but I'm sure they will help me when we get the results next week.

Just got to get through the weekend somehow!

ghansell Fri 15-Jul-11 16:08:13

Hi Endogirl,
I have a positive story. I had a nuchal fold of 6mm,im 37 and they didn't do bloods as they thought it was pointless due to my age. I went and had a cvs done at 13+2 weeks and then waited 10 agonising days for the results. I was told to expect the worse. The hospital rang me at 5.30 on a friday which to be honest scared the crap out of me as i was meant to ring them. They told me the news i wanted to hear and didn't thibk i would. Chromosones were fine and we were having a boy(this is our 5th child). After this we then had to have heart scans at st thomas at 16w and 22w
just to check everything was ok, as that can be a major factor in nuchal fold too. We were given the all clear at 28w that he was ok and nothing obvious was wrong. I am now 37+2w and due to be induced on wednesday due to diabetes.
Hope this helps.

Endogirl Fri 15-Jul-11 17:53:18

Hi ghansell
Thx so much for your reply. It's great to hear a positive story. Thank you for sharing. It's made me feel a little bit brighter and ready to face the weekend. I'll be realistic but it's nice to know there is a little hope.
I wish you all the luck in the world for next Weds. Pls do let us know how you get on xxxxxxxxxxx

manitz Fri 15-Jul-11 18:17:01

hi endogirl, my partner and family were also very sure I should have a termination.

With my first one I was 23 + weeks when i found out the baby had a massive heart problem. Clearly she was moving and I was not convinced initially that I wanted to terminate but my husband and dad particularly felt there was only one choice. I considered leaving and the two of us going it alone and had to work through all those options before I eventually decided that wouldn't be in the baby's best interests. That may not make much sense, difficult to condense the decision process to a sentence, but I had to make the decision for myself and not feel pressurised by other people otherwise i don't think I would have mentally coped afterwards.

making the decision with this more recent pregnancy was easier and it's true it's easier at an earlier gestation for obvious reasons but I felt I had up to about 18 weeks gestation before the baby moved. I think you have to balance the gestation and bonding with having as much information as you can when you make the choice but don't be scared of the giving birth it's not the worst bit (in my opinion). I haven't ever had the surgical version (think my previous post implied i had).

I hope the cvs goes well for you next week. I didn't realise you need to rest up for 24 hours after and had to go home by tube so make sure you have someone with you.

ghansell's story is great and I have read others with good results. there are 18/19 chances your baby doesn't have downs. It could have a heart problem but it could just be a hole. there are a variety of levels of seriousness. Completely unscientifically I feel that lack of hydrops/hygroma is a very good sign but you also have to try and prepare for all options without going mad. Box sets are good for taking your mind off things. xx

blacktreaclecat Fri 15-Jul-11 21:08:07

So sorry that you are going through this. We had a 10mm nuchal with hydrops- fluid extending all down the back and torso. Cvs showed t21. I had surgical management at 13 weeks. The cvs result only took 24 hours.
For me the surgical was better as I'm scared of birth. Also I was able to depersonalise the situation- we don't know the sex and didn't name the baby. We think of it as and told everyone it was a missed mc.
Hope all goes ok

misty0 Sat 16-Jul-11 09:25:13

Hello lovie,

So so sorry that yiou find yourself in this situation. The shock and the waiting are the worst part. My story is very similar to blacktreacle's above. I terminated in April this year. My nuchal was 6.5mm and my bloods were inconclusive, the heart beat was not good. I had cvs at 13+5 and got my results back within 24 hours. T21. We knew we would terminate - i had to wait over a weekend as my surgical term was booked for me for a Monday morn. I felt lucky to be just in time for both the cvs and a surgical termination as i did not want to face an induced labour.

As you have read some ladies did not have the choice. For some it has meant a different approach to the grieving as they got to hold and name their babys. I did not - i still dont know the sex even. I dont regret my termination, or the method i chose. As was said above i just regret not having a healthy baby.

Everything crossed for you hun, as there is still a chance of getting good results back. Its happenend lots here! I think your approach to the situation of thinking/preparing for the worst is sensible, and its how i was too. I was in pieces long before my cvs even. By the time i got my results i was not in shock anymore i jhust needed to 'get on with it' if that makes sense?

I hope this was some help??? Feel like i've rambled! All the best to you, and keep us posted - <hugs>

Endogirl Tue 19-Jul-11 11:52:20

Hi ladies

Thx so much for all your replies. They all help so so much.

We're still waiting for the results which is agony but they should come through either today or tomorrow.

Hope you all had a good weekend xxxxx

MyangelAva Tue 19-Jul-11 15:32:24

Hello Endogirl, I'm sorry to have read your story and I really hope that it has a happy ending.... There are a few about, even on here! In particular I hope that you are doing ok during this waiting time- it really is torture.

I'm afraid I can't help you with the early termination question. I didn't find out until 26 weeks that my baby girl had Edward's syndrome and associated heart abnormalities (which is fatal). This was detected by scans over a 6 week period from my anomoly scan. I think that if you do wait for further scans then you should push your hospital to ensure that these are done quickly and efficiently so that you can get the full picture (and therefore make your decision) as early as possible.

As Manitz says, I think that it is important that you make whatever decision is best for you and your family and be sure of it; whether that is waiting to find out about any further complications (if it is DS) or as to when and how you terminate, should you have to even make this decision- remember, things could still be ok.

I will be thinking of you x

MyangelAva Tue 19-Jul-11 15:34:50

Ps You say that your blood hormone results were low- could I ask you what your blood hormone results were? I think they give you an 'equivalent mom' measurement? X

Cat98 Tue 19-Jul-11 16:16:31

Just wanted to say thinking of you and keeping everything crossed that you have a positive outcome. x

EggletinaClock Tue 19-Jul-11 17:04:09

Hi Endogirl, sorry you've found yourself in this situation. As has been said above there are happy endings and I hope you're one of them. The waiting really is the worst bit, even when things go badly. It's a kind of torture not knowing what your fate will be.
We're all here though and will be thinking of you.

Endogirl Tue 19-Jul-11 17:05:09

We've just had the results back and it's a little girl who has Turner's syndrome. We have an appointment tomorrow morning with the consultant to discuss everything further.

I'm heartbroken for my little girl as from the Internet it seems to say there is a 98% chance of mc but I'm going to try and remain calm(ish) until we can get some more info tomorrow.

Thank you all for all your help.

If there is anyone on here who had a similar experience with Turner's, I'd love to hear how you managed with everything xxxxxxx

duchesse Tue 19-Jul-11 17:13:14

I used to teach a delightful girl with Turner's! Very lovely personality and no discernible special needs although she was a lot more trusting than the average teenager.

blacktreaclecat Tue 19-Jul-11 17:27:32

Sorry to hear this. I think Turners is one of the abnormalities with a higher chance of a take home baby. Also the risk of it recurring is very low.
Hope tomorrow gives you some answers.

cherrybug Tue 19-Jul-11 19:00:55

Sorry to read your news Endogirl. I've not posted before but have been following your thread. My understanding of Turners though is that it is one of the less problematic chromosomal abnormalities in that many girls lead normal lives with the main problems being around fertility. You should be referred to a geneticist if you havent already, who can explain more about the condition.

There are people on here who have experience of Turners - I remember a thread not long ago with people talking about their experiences of having a girl with Turners syndrome and most of the posts were really positive. If you search back a bit you should find it.

I guess the issue at this stage will be if there are any other problems they have picked up and I expect they may recommend extra scans to make sure. Go tomorrow with all the questions you have written down so you dont forget to ask anything.

I hope the information you get tomorrow is positive and please remember there is lots of non judgemental support here if you need it.

Do let us know how you get on. Good luck.

Cantdothisagain Tue 19-Jul-11 20:23:15

Hi Endogirl

Sorry to hear you've been through the mill with the nuchal and testing... I wasn't going to post here, as my story is different from yours, then I thought it might help.

In my second pregnancy the nuchal fold was measured at 8.8 mm one day, then, the next day when we returned for cvs, it was over 10mm. Stratospheric. There were various related problems with baby: cystic hygroma, excess fluid in organs, small, basically it was clear the baby wasn't going to survive. CVS couldn't happen because the placenta was in the wrong place, so to speak. It was evident that regardless of the outcome of cvs, the baby couldn't survive, so we decided not to wait for amnio and terminated. PM showed Turners. At subsequent consultant apptments, we learned more about Turners and it seems that women with Turners, fertility problems aside, usually live quite 'ordinary', 'normal' (for want of a better word) lives. Turners in itself is not a reason to terminate, IMO, but the problem is that in utero as you have found it has a very high mortality rate. I don't know how you can tell what the chances are for your baby but presumably consultants will be able to say more based on what they have seen in the scan (you weren't told, as I was, that there was no hope, so it's already looking better). Good luck and I hope they can tell you something positive.

MyangelAva Wed 20-Jul-11 13:42:34

Hi Endogirl, I'm sorry that you have had bad news. Unfortunately I know very little about Turner's syndrome but I just wanted to reiterate that there is plenty of non-judgmemtal support here. I also agree with cherry in that it would be very helpful to have questions written down, when you go for your meeting (which I think may be today, so I apologise of I'm a bit late!) and to take a pen with you as things often get forgotten or confused once you come out of those kinds of meetings. I hope that you have some sort of good news after this diagnosis. X

mrsbigz Wed 20-Jul-11 15:18:17

hi - just wanted to see how you got on at your appointment this morning. i hope that the outlook for your little girl was/is a positive one. there are many positive stories on MN about turners syndrome - i think as others have said one of the long lasting effects is fertility. but to be honest i'm no expert on it.
just wanted to let you know i was thinking about you xxxxx

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