NT measurement 4.2 + 9mm cystic hygroma - any stories/advice?

[Wingdingdong]

NT scan was last Thurs. It's not looking good. Looks like at least 1:2 chance of chromosomal disorders, 5% chance of a live healthy baby surviving more than a few days at most.

If anyone has any stories of beating the odds (and the cystic hygroma is considerably more concerning than the NT measurement alone - DD was also >95th centile for NT and is absolutely fine), then please tell me.

Or if anyone's been in a similar situation and can advise what questions I should be asking/tests we should be requesting/things we should be thinking about, again please let me know.

We have an appt with a consultant in fetal medicine on Thursday, one with the high-risk obstetrician on Friday (had been scheduled before the NT scan due to other factors) and a cardiac scan/assessment next Monday.

I turned down CVS due to the risk of miscarriage (I know, risk of miscarrying naturally is far greater - but whilst there's still a 5% chance of a healthy baby I'm not going to jeopardise that). I'm already 14w1 anyway so we wouldn't have long to wait till the lower-risk amnio became an option if we wanted, so didn't see the point in rushing to squeeze in a CVS - especially as we can get the cardiac scan in the meantime.

No advice I'm afraid, but thought I'd bump for you.

Thanks. I know cystic hygroma isn't that common (fortunately for everyone else!) so I may have to wait a little while for someone with experience to come along and read this.

It's hard waiting for knowledge and facts though. I've had one live birth (high risk, complications) and three miscarriages (5w, mmc 16w, 10w) and am coming up to the due date for the last one. Being pregnant again was what was going to get me through that...

Hi Wingdingdong, I'm sorry to read you're going through this, it seems very unfair after everything you've been through, but it seems life is not very fair. I don't have any experience of the specifics you describe but I have done all the waiting for specialists and it is very stressful, whether it ends well or not. I hope someone can come and share a positive experience with you about these features, certainly there seem to be a few people about who had large nt measurements but no actual problems.
My only advice would be to find mindless activities to take your mind off the waiting.
Thinking of you anyway.
x

Hello wingdingdong.

I'm so sorry i dont have any practical advice to offer you as my own situation was different. High NT measurement but no cystic hygroma. I had a late CVS - couldnt wait for amnio. You've been through so much - i'm sorry you're having to go through this now. As egglet says - try to keep yourself busy - its so hard to keep your mind from wandering and worrying.

i wanted to say that there will be many ladies reading this and wishing you all the very best of luck and hoping someone can give you a little more specific advice. i would like to offer you a virtual hand to hold while you are going through your tests. This is such a stressful time and it can help (it helped me enormously) to talk here about how you're feeling with ladies who know what you're going through.

Keep us informed xxx

Hi Wingdingdong, I'm so sorry you find yourself in this position. I don't have a happy ending to my own experience of cystic hygroma/high NT (terminated as baby had no chance of survival-however my figures were worse than yours and my baby had fluid everywhere too) but I did do a lot of googling at the time and found other cases with similar figures to yours which worked out fine, baby perfectly healthy, no problems, and NT and hygroma reduced during the pregnancy. Cystic hygroma can indicate Turners which isn't in itself such a bad chromosomal disorder; the problem is that it has a high in-utero fatality rate, but, once past that, Turners is less debilitating than other chromosomal disorders. It sounds like your hospital are doing all the right things with the cardiac scan, etc. I really hope your baby is okay and the hygroma/NT are reduced at the next scan (googling showed me this can happen). Very best of luck. I know how terrifying it is and I really hope it works out well for you.

hi wingdingdong, I am similar to can't and have had a termination of pregnancy with a baby with downs syndrome, high nuchal and cystic hygroma. However there was a poster around the same time who I think was called peel princess who had a positive outcome. Try searching for her at october 2010. hope that helps

Thanks everyone. This is short as I can't see. Currently on a bed in A&E, just been diagnosed with detached retina so opthalmology clinic now being added to list of appts in next few days. Worse, they're still investigating a heart murmur (me not baby) found this morning which is unusually loud persistent and omnipresent whatever that's supposed to mean. Just had ECG and blood tests but am likely to be here overnight for monitoring. Seems they're now more worried about my heart than baby's. On plus side short journey to fetal med clinic tomorrow. This complicates things. May not update for while but wanted to thank you for all your replies.

oh wingding i'm so sorry i wasn't around for you when you first posted - although i have spoken to you elsewhere. i've been camping for a couple of days. good grief, this latest news is the last thing you need right now - i hope that you are holding up ok, and they are looking after you in hospital. obviously appreciate that you're not in the best position to reply or update, but please (when you can) let us know how you are doing and how your fetal medicine appointment goes tomorrow.

Oh, and i echo Manitz - i remember reading Peel Princess' story which was a happy ending
xxxxxxxxxxxxxxx

Thinking of you wingding

Let us know how you are, when you can xx

Poor you. Thinking of you and hope you have some better news over the next couple of days.

hi hun, just checking in to see how you are doing. hope all is okay, both with you and with baby. please let us know how you are when you get the chance xxx

Hello all (and hi again to Mrs Bigz),

Sorry for not being back sooner, the problem with my eye has made looking at a computer screen difficult (and I've been on an online work training course which has knackered it completely!). Soooo... update:

last Weds: in A&E, thinking I was in for the night - but they discharged me at about 7pm

Thurs: fetal medicine scan. NT measurement had increased to >6mm from 4.2 a week before. Not looking too great. Cystic hygroma fluid still confined to neck area though.

Fri: emergency opthalmology appt at Kings. Vision in right eye severely affected, diagnosed as inflammation of nerves behind eye, cause unknown. Should resolve with time but am now colour blind in that eye which may be permanent. Can't drive till sight restored, obviously, but that's a bit of a pain now trying to get to all these appts and drop off/pick up DD from nursery!

Mon: fetal cardiac scan at St Thomas's. ALL FINE! Comes with caveat "at moment" but no major catastrophes.

Still waiting for cardiac outpatient appt for me, got another opthalmology one tomorrow. As far as the baby's concerned, we have another fetal medicine clinic appt next week with a scan, and have the option to do amnio then if we want. Having thought initially I wouldn't, we're now veering towards it. DD has become really unsettled and clingy, and obviously really confused by my frequent disappearances/reappearances and by being left with different carers. I think we need to get as much info as possible to plan her care as well as the baby's. Plus I was high risk anyway (even more so now!) so I'd like to make sure that the ob's plans and the fetal medicine consultant's plans are in the best interests of all of us. Haven't yet thought about what we would do with the results - one step at a time.

I was worried about the risk of amnio but am pretty reassured that the particular consultant who'd be doing mine would have a lower risk than the average 1 in 100 (and apparently that's quite an old figure...), and anyway at the moment we're facing a 1 in 2 or 1 in 3 chance of chromosomal abnormalities and/or major physical abnormalities based on NT and 1-5% chance of good outcome based on cystic hygroma, from the most recent published studies. If this baby's to have any chance, I think we need to take the risk if only to find out what we're dealing with and what the likely implications are.

Hard though.

If you're still reading - thanks for letting me offload! And thanks for the support. I'd always had a feeling something wasn't quite right so we hadn't told anybody - which means I'm now feeling quite lonely.

One question - how do you deal with the questions and congratulations as your bump becomes more obvious? Now 15+3 and anyone who knows me would realise.

hi hun,

been thinking about you loads and pleased to hear an update you. grief, you've been through such a lot in the past couple of weeks??? i'm sorry to hear about your eye (and that it might be permanent) - and hope that your appointment coming up can give you more information/clarification.
As for baby. God, i remember this period soo well. all the different thoughts and emotions running through your head, plus also not only having to think about your unborn baby, but your existing DD at home - i found that already having 2 boys to look after completely changed what i thought my reaction to things would be.....like having an amnio. we needed to know, like you, so that we could not only prepare for the baby, but also the boys as well.
also like you, at the time we had absolutely no idea what we would do with the results, just that we needed to find out.
as far as pregnancy questions, i'm not sure how to avoid them. we hadn't told anyone we were pregnant with Eve, but after we planned the amnio, we did tell close family and a couple of friends. but other people, either didn't ask because we didn't tell them, or just didn't notice (i did wear particularly baggy / loose-fitting tops a lot of the time!). having said that though, after we lost Eve i did kind of wish that people had known i was pregnant as that would have accounted for my sadness and disappearance from the world for a while.

sorry, not sure i've been much help, but just wanted to say we're still all here ready to lend an ear (and a shoulder!!) and if you have any questions about amnios / results there are lots of us who would be willing to share our experiences with you xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

mrsB what were you doing up??

wingding - so glad you've updated us. Like mrsB i've been checking back here to see how you are. Please never worry about writting long posts - it ok. We've all written war and peace here more than once over the weeks, and if it helps to get it off your chest to sympathetic ears/eyes then you post away We're listening.

Take things one day at a time. I think most of us here have had CVS or amnio and then had to make decisions based upon the results. Personally i knew what i wanted to do in my given situation - and my OH was totally in agreement - so once we got our results we knew what to do straight away. For other couples thinking time is needed, so dont rush yourselves.

Of course your DD is fretting. Its not your fault - your going through so much and children pick up on stress from their parents. Its so hard to keep a sense of normality for the family and smile when you just want to bury your head and hide/wail/rage untill everythings sorted.

On coping with people seeing your bump and what to say .... my experience was:

I had my term. at 14 weeks and wasnt showing much. So i didnt attract attention because of a bump - however my OH had been so excited when i found i was pg. that he had told everyone within a 100 mile radius about the baby before he got home from work that day! So consequently we had to then let all those same people know when things went wrong and then again when we had made a decision to terminate We found that it was helpful to ask people we spoke to to pass the sad news on to others they knew, knew IYKWIM? It cut down the bad news phone calls alot. To people who were casual aquaintences - i'm afraid once we were told things were not good, i either avoided them, so as not to have to talk about my pregancy and lie - holding back tears, or if they caught me i would just say - "oh yes, all ok, 13 weeks now" and change the subject pretty smartly. After my term i just said i had lost the baby to those who were not in the loop. 99% of the time people dont push the conversation when they hear that.

As mrsB said it can be difficult to know who to tell, who not to tell. In the end i found i was relieved so many members of our families and friends knew as, although it was painful telling them at the time, we didnt then have to invent reasons for wanting to stay away from social situations for a while - and be thoughroughly miserable and left alone.

I hope some of this great ramble has been of help? Sending you all my best for your eyes and for baby and for your OH xxxxx

hi wingdingdong
I'm so sorry to hear about all you have been through recently - both in your pregnancy and your health. I had my t21 termination at 13/14 weeks and had a previous termination for hypoplastic right heart at 26 weeks 4 years ago. We didn't find out about the hrhs until 23 weeks so everyone knew i was pregnant, I told people what was happening during the investigations (if they asked how things were going, not just without prompting and tried to be matter of fact) - then told people who hadn't realised about the termination exactly what had happened when they asked how long i had to go etc. a couple of people cried on me but it was fine and it was helpful that everyone knew the potential problems when i came to terminate the pregnancy. I made some new friends out of it who I am now very close to because of their support during that period. as a result it was easier to be relatively truthful about the recent termination though less people knew i was pregnant that time because it was an earlier gestation. also there are a couple of kids at school with downs syndrome and I was a bit more sensitive about the subject as I wouldn't want to hurt their parents by shoving it in their faces so sometimes just said I am no longer pregnant.

I was not very forthcoming with strangers but would start with a 'there may be a bit of a problem with the baby so I need some extra tests'. if people want to know they will continue to ask questions and others will not. I think it helps to prepare an answer you are comfortable with and either shuts people up or enables them to ask more depending on if you want to talk about it or not. Or depending on if you like them...so you could always just pretend you aren't pg and that your tummy muscles have just got v slack and you need to sort them out..

Also I wanted to say with my heart baby I went to dr simpson at st thomas evalina and he was absolutely fantastic. I had read papers by him and he really doesn't believe in sugar coating anything and will tell it like it is. I am really pleased that your cardiac scan is ok so far and hope that you are able to cope with the next steps. st thomas also gave me the number of the nurse who I could call for counselling if i needed it - did they do that for you?

I don't know how old your dd is but my two were 2 and 4 when I had my first termination. they were well aware of it and had some issues at the time. the older one asked questions and i tried to prepare them by explaining that the baby might not have all the parts it needed to live but the doctors were looking. the 2 year old was quite confused but neither of them have been detrimentally affected by the experience - they are now 8 and 6.

sorry for the essay but I just wanted to let you know how I coped with some of the issues you are going through and maybe some of it might strike a chord. take care. xx

Thanks again for the support. Still in limbo. 16w now and I'm very obviously pregnant (didn't have anywhere to hide it really - I always look like I've had a small football stuck up my jumper when I'm pregnant and always far too high to look real!). I've used a couple of the tips to people who've congratulated me - though not everyone gets the hint. I'm getting slightly fed up with people telling me "oh, that's the problem with early scans, they always find something" (well, if this one isn't going to make it to term/survive birth, I'd rather know now than find out unexpectedly at 40w) or "you do know that high risk from the NT scan is 1 in 250, don't you?" (er, yes, I do know that the high risk band STARTS at 1 in 250. I also know that the risk we've been given is quite a bit higher than 1 in 250...).

DD turned 2 six weeks ago. It's difficult to know how much she understands. She's very bright (not just a proud parent's boast, honest :wink:) so I know she takes in a lot; communication's pretty good but you're never really sure what links are being made or what a 25m old is capable of understanding, no matter what their level of intelligence. She brought me one of her Innocent smoothie cartons a couple of days ago and read (well, recited - she's clever, but she's not that clever!) her favourite Tabby McTat book to me "to make Mummy all better" even though I wasn't expressing any emotion at the time (putting away groceries!!) so she's obviously picking up on the stuff we're not saying and trying not to show, and she's trying to react by copying the behaviour we show to her to make her feel better. I just don't know how much of the cause she a) knows and b) needs to know. In theory, she doesn't know I'm pregnant (we've not told her). In practice, my B and SIL are expecting #2 in December and #1 is a month older than DD. DD assumes everything her cousin gets/does, she gets/does too, and knows very well that her cousin is 'getting' a baby brother, so talks about her own baby brother coming. She's also told me my tummy is big because there's a baby in there.

As for counselling, the fetal medicine midwife at Lewisham gave me the number of counsellors, who've already phoned me. There just doesn't seem much to be counselled about at the moment! It's the practical advice/experience I need more, till I know what the outcome is likely to be. Oh, and a cleaner. The house is in a terrible state since I've been spending so much time sitting around in hospitals instead of doing the housework!

hi my 2 year old didn't ask me anything so I didn't tell her but it came out later that dd1 had been telling her things as she understood them so it was a bit like chinese whispers. 6 months after my termination I had to go for an outpatient appointment and mum looked after them as she had during the period up to the appointment. dd2 asked her if I had gone to pick up the baby so we were pretty aware we hadn't done a very good job, i tried to chat to her about it but as she was quite matter of fact about what had happened and not upset I didn't push it. we took them to scatter the ashes for the baby but as I said i was 26 weeks so they already knew I was pregnant well before we knew there was a problem.

In subsequent pregnancies (3 now) i haven't told them I was pregnant until much much later as I find that much easier. I expect your dd is as likely to be picking up on the fact that you have been ill as much as anything else. How are you feeling physically? Did you have your cardiac appt?
take care. x

Oh my god you poor think wingding. I'm so sorry that you're having a complete nightmare with so much happening at once. You seem to coping really well with it all which is amazing.

We recently terminated at 16 weeks due to our little girl having Turner's syndrome. I had started to show (or maybe it was just my craving for McDonalds) so people did know. We just told them that we lost the baby and people don't really ask questions after that. I think if you say you are worried then most people won't delve as they appreciate it's sensitive.

Keep hold of your counsellor! I've been trying to see one for a month and it still hasn't happened!!

Good luck with everything and I'll be thinking of you. xxxxx

Well, now 17w and we had the amnio last week. Got the preliminary results on Friday - not Down's, Edward's, Patau's or Turner's. Trying not to feel too relieved until the rest of the results come in later this week - as the MW said, "that's another hurdle you're over now", but we're nowhere near the finish line yet and I don't have the faintest idea of other chromosomal disorders that could be revealed with the full results. However, those four were the biggies, along with the heart, so I'm allowing myself a teeny-weeny bit of hope - though not the maternity clothes, yet!

Thanks again for all the support. I'm not sure if I'm coping well or if I'm just in denial. Honestly, I came into the pregnancy with the assumption it could all go wrong at any time up to and including the birth (an assumption born of experience rather than pessimism; we were very lucky that DD survived what another MW described as a "case of monumental medical negligence" relatively unscathed) and I guess I've had the mentality throughout that I may be clinically pregnant but I'm not yet expecting a baby... And frankly, a hyperactive 2yo is a pretty good antidote to wallowing in too much misery, introspection and what ifs. Other than the few snatched minutes to come on here and a fertility website, I don't get the opportunity to think too much. Probably what's saving us all at the moment.

I'm really sorry for everyone else's losses but appreciate you sharing your stories/advice.

wingdingdong - i've been looking out for your updates and i'm SO glad that the preliminary results have come back clear for the four main trisomies....as you said, not out of the woods yet, but that is one HUGE hurdle to be over.
sorry if you've said elsewhere, but (other than waiting for the full karyotyping results) what is your plan of action now? have you had a cardioscan yet - and if so what was the initial thoughts on that? i remember with Eve i had a detailed cardioscan at 16wks and they were able to tell quite a bit, although did say that i would have to return at 21wks for an even more detailed one.
i'm glad that dd is keeping you busy - i found with my boys that i only really crumbled in the evenings (after they'd gone to bed) as when they're around there was just no time to think - which is some respects is a good thing.
when do you expect the full results to be back - have they given you an actual date? you know i'm crossing everything and hoping and praying that everything comes back ok for you. are they still monitoring the CH - and has it grown at all? gosh, i'm sorry for all the questions, i have been thinking about you a lot and they seem to all be pouring out now!!!
Hope to hear another positive update from you soon xxxxxxxxxxx

CH merged into the nuchal fold by the second scan (which is why it grew so much and we thought it could be beginning of hydrops). Then - it disappeared. Nuchal fold measurement was down to 5mm, just 0.8mm higher than 3 weeks before and less than the expected increase in that timeframe, and no sign of the CH. It's weird.

We're told that once seen, the increased risk from CH remains, even after the CH has resolved - but obviously the risk of hydrops (whilst still an omnipresent threat) decreases with the decreased fluid levels.

The cardioscan at 15w was totally normal for dates (seems I have more heart issues than the baby right now, I have a hole in the heart, a heart murmur and tachycardia! Hey, if I'm taking the hit, I can deal with that, I feel fine and can still run for a bus whilst carrying my 2yo so it can't be too serious). We do have to go back at 22w. We're aware that a more detailed later cardioscan could reveal problems - but they're very unlikely to be "catastrophic".

Basically, the main threats at the moment are: hydrops, just because there has been a hygroma; unknown rare chromosomal disorder; Noonan's Syndrome (which is pretty much undetectable till after birth, as far as I can see - no indications of it other than the high nuchal and the apparently-resolved hygroma but it can't be ruled out); 'minor' physical abnormalities ('minor' being probably non-fatal, though still potentially serious and requiring surgery, etc).

At the moment we don't have a definite date for final results but it's very likely to be this week - 7-10 days from amnio last Weds. I was told that they would expect to let me know by Fri, but it could potentially be Mon.

I've got another fetal medicine appt/scan in a couple of weeks' time, but have appts with the anaesthetist and high-risk ob (re birth plan/my care) in the meantime. Still considering asking for a home birth just for the reaction .

Right now I think I'm just in "whatever..." mode. We were told with DD that she had a 30% chance of surviving to term and I've had three miscarriages too and was told by the recurrent miscarriage clinic I had a 75% chance of miscarrying any given future pregnancy, so I kind of feel like been there, done that, it's not a proper pregnancy unless you do the whole obligatory rollercoaster ride and the odds are stacked against you. I'm still feeling really detached; I guess it's the self-defence mechanism kicking in. Anyway, it's relatively easy to think about it quite objectively at the moment, and let the hospital get on with it. From experience, the emotion doesn't usually kick in till 2-3 weeks after the loss, and then again at the due date. Which, for the last miscarriage, is the day after tomorrow... With DD, I suppressed the fear throughout the pregnancy and delivery and then it all came out in nightmares and flashbacks about 6m after the birth - the nightmares are still ongoing, I wake at night crying and thinking I've lost her and have to go and check she's still breathing, but this baby still isn't featuring in the subconscious despite the fact I can feel it wriggling. It's so strange and illogical, the way the mind works. I guess sometimes you need the detachment to stop yourself just falling apart. I can't afford to break down so I won't.

oh wingdingdong you have had a tough time of it but I'm really pleased to hear that the cvs has given good results so far and that no major heart abnormality can be seen. When we were talking to st thomas i was absolutely amazed at what they could do for heart problems they didn't consider serious but I would previously have felt were, whilst they could only have given my child palliative care, they can 'mend' most problems they come across.

Also really good news aobut he ch being reabsorbed. Maybe you will get to be another princesspeel after all. I hope the other possibilities you listed get ruled out soon and that you are able to progress with this pregnancy.

I have had 3 pg since my first termination and I try to enjoy them for what they are at the time and not think about them being outside my body or ever becoming children. I think that is how I defend myself - i can get attached to the alien within but I dislike thinking about what it will be like to hold my baby or what sex it might be etc. good luck for the rest of the week. x

i have such a similar problem to wing.... 12 scan 8.8mm cyctic hygroma... we have had a cvs done yesterday, waiting for first results due friday 4pm. I am like wing, in denial or numb.... all cried out. getting angry as i feel the medicals want to abort what could end up being healthy....if less people terminated maybe the results would be higher. dh wants to terminate and move on, but i can't without answers... plus this was a fertility baby so really hard work to get. limbo land.... not a great place, but me and baby are safe. at the cvs on tuesday doctors and nurses didn't even expect to see a heart but there it was and there was baby waving back.... they still keep saying i will misscarry at some point, but i don't see anything wrong on the screen, nor can they other than the fluid... neck and mine is chest and abdoman....
WING please keep in touch......xXXx we can support each other

Wingdingdong - by all means you have to find out what's right for you,
but 'rare chromosomal disorders' and Noonan's (I think that's not considered rare) can be often diagnosed my a microarray (also called CGH array). (I believe some form of Noonan's might not be diagnosable this way, but most of them are.). An exception are single gene disorders. So just to give you full information, I think you could press to have a micro array done on the amnio sample (here in the US they freeze some of it for that purpose, not sure about UK).
It depends what you would do with this information. If you would go through
with the pregnancy in any case there might be no point to it. I wish, I had known what was to come, but then I had no warning signs like a high NT.

UPDATE: I got the full amnio results this afternoon. All clear!!

Not entirely sure what expectations are at this point (the fetal medicine MW is away so it was a 'normal' MW who told me) so I don't know if there could be anything else lurking waiting to be uncovered. I know we have a fetal scan week after next, by which time the baby should be big enough to check all the organs properly, but I don't know whether they'd be looking for 'major' problems or 'minor' (fixable) ones. We've got another cardiac scan the week after that, but they've already said that whilst there's quite a high possibility of finding something minor which may require surgery/special care at some point, they don't expect to see anything major.

So I'm not quite jumping up and down yet, but I'm definitely feeling more hopeful and ready to start thinking of myself as pregnant. I may even start wearing maternity clothes now, which would be a relief!

Rachee - sorry to hear you're going through something similar. The team I've seen has never once recommended termination, just mentioned it as a possible outcome. Both the consultant and the specialist MW have been absolutely brilliant in not drawing conclusions and in reminding us that there's always hope whilst the heart's beating, until conclusively proved otherwise - though remaining pragmatic throughout and not beating about the bush with the odds. I can't really give any advice, you've read how I've felt over the past five weeks and all I can say is that it's really tough, just waiting. Good luck with the CVS results.

To everyone else - thanks so much for the support. So few people have known IRL that I've definitely valued your comments! I'm also so sorry for those of you whose babies didn't make it and appreciate your support all the more because of your losses. I'll continue to update till we know the final outcome, if only because I know that other people in similar situations will search for these stories and it's so frustrating to find someone who's had the same problem but you don't get to find out the outcome... but I am at least feeling much more positive. It doesn't look like this pregnancy is under threat any more so I'm feeling more optimistic that we can deal with whatever's left to us.