High Nuchal and fetal hydrops - experiences please

[GaryWilmotsWedding]

Hi all

Had our 12 week scan yesterday and unfortunately had a very high NT measurement of 4.6mm and saw in the notes when we got home that the sonographer also detected hydrops in the abdomen. As this is our second child we both knew immediately the nuchal fold did not look right. Heart appeared fine and moving normally. Growth almost exactly in line with where I thought I was based on dates.

Before we had seen the notes I was doing ok at keeping calm but having read up since then I am feeling a bit hopeless. It seems very unlikely our baby will survive and that we may very well have to play a part in deciding the timing of his or her death. I have an appointment for a CVS on Friday morning and obviously will know more next week, but I was wondering if anyone could share their experiences if it's not too painful? I'm not looking for stories of miracles (although of course it would be great to think there is some hope) but rather I feel so uncertain about how the next few weeks are going to unfold and would be very grateful to hear how things happened for you.

Something else to mention: I had a very strange rash at 8 weeks pregnant that I did go to my GP about but they felt it was nothing to be concerned about if it resolved in a few days, which it did. It was all over my body and caused my face to swell up considerably. I was very tired and extremely itchy. I am now concerned I may have had Parvo virus but mentioned it to the midwife this morning and she just said to discuss it with the doctor on Friday.

I spoke to ARC yesterday who were fantastic - clear, informative and calm. Despite this and the reams of info on Google, I still feel I am in an information black hole so would appreciate any experiences you could share.

I had a 4.6mm nuchal reading (no hydrops though) and low Papp-a (can't remember the MOM) and was also told the nuchal almost always means something. along with enlarged ventricles in his brain and polyhydramnios it was a pretty shit pregnancy with doctors finding all these problems but not actually able to tell me what they meant.

But amazingly he is fine. No Downs (1:3 risk), no oesophageal artrasia, no heart problems, no chromosomal/genetic abnormalities, no hydrocephalous - all fine.

I don't want to give you false hope, but I never thought we would come out ok the other side.

whohasnickedmyvodka and blacktreaclecat I'm so sorry to hear how things worked out for you both. Thank you so much for sharing - every story makes me feel so much more prepared and forewarned, which are hard states of mind to achieve right now! You both sound so brave, and whohasnicked I'm so pleased you have another baby on the way! Best wishes for a stress free pregnancy and safe delivery.

So, more action today but obviously still nothing concrete. We decided to have a harmony test in case the CVS fails again next Friday. At least we would have some more info in the meantime and although not a diagnosis, should give a strong indicator.

Went and had the blood test and scan today. The sonographer was pretty sure about a nasal bone being present, the cord is normal 3 vessel, the heart rate 168bpm and rhythm fine, brain looks normal, skull looks normal shape and profile not DS-y. Nuchal was 3mm today but I think she undercooked it a tiny bit, but I'd say it's prob down a bit from yesterday. She suspects it's a girl (two white lines to be seen) and pointed towards Turner's. She thought my bloods were inconsistent with Edwards and Downs, and the baby looked too 'well' for it to be Patau. So, it was good to hear what she saw but really still no further forward on what might be causing the markers.

We've had a very up and down day with lots of tears from me but now DH is upstairs putting fresh bedding on so I am going to go and snuggle in the clean sheets and try and get some sleep. Some lovely friends brought round a delicious dinner for us which did us the world of good. Thanks for your continued support. I'll keep you updated xx

And LM thank you. You are not giving false hope at all. It's great to hear things turned out so well as like you I've been told the nuchal almost always points to something. Can I ask, what did it take for you to get comfortable with the idea that in your son's case it didn't? We're a long way off the possibility that things might be ok, but one of my longer term fears is that it will always be a creeping worry even if they can't find anything. Was it only when he was born or did you find a way to wrap your head around it before then?

Tbh, it was a good way after he was born before I really came to terms with him being unaffected by anything sinister. I remember studying him For anything abnormal - ear shape, eye shape, for quite a few weeks afterwards.

He does have pectus excavatum, whether this is linked or not who knows. A small price to pay considering where I once thought we were going to be.

And he is a bit slower at things than his sister. And he is much angrier than his sister. And even now I still wonder if that is his character or if there is something that I just don't know about; if that 4.6mm really meant something after all... So perhaps I still haven't come to terms with it.

Well that sounds like some more good-ish news.

Not to raise hopes too much but turners, although very serious, is survivable. Generally girls who have turners that survive pregnancy tend to be not too badly effected. I think (only know this from speaking to people who have lost babies to turners) pregnancy and getting to somewhere near full term is the big challenge with turners.

I'm not surprised you are emotional. It being dragged out will be making things feel worse too.

It's great that your bloods don't look like ds or Edwards (if they don't indicate Edwards they probably don't indicate pateu either)

I know nt normally means something but maybe it doesn't mean something as horrific as you were first imagining?

Thanks for your honesty LM. I think I would feel exactly the same but as I keep telling myself, you probably have a far better idea prenatally of your child's future health than most people do after do many tests etc. it's good to hear that the differences between your DS and your DD may be nothing more than natural variance in personality and ability!

kitty yes, I guess it is good-ish news although bizarrely I think even if it were bad news I think we both would have been glad of something definitive to hold on to. That makes me feel very guilty but right now I am just desperate for information of any kind.

Re turners, I have a friend who is a paediatrician who was less positive about turners. Her thoughts are that people think it's not so bad because it's survivable, but actually can be really very serious and complicated and she has seen some terribly difficult cases.

Off to see some friends this afternoon for a pub lunch. DD has diarrhoea which although revolting reminds you that normal life goes on!

I know hat you mean about just wanting an answer. Totally normal way to feel in this situation.

Sorry about the bad info on turners, I only know what people who have lost a baby to it were told. I'm so sorry, I thought it was a slightly better prognosis, obviously not

Hello Gary,

If it is Turner's syndrome, and the NT score / hydrops are decreasing not increasing, then I'd hope you'd have a fighting chance of carrying to term - if that's what you choose to do. It's true that girls and women with TS are prone to a range of physical complications, but these are far milder than those caused by most other chromosomal abnormalities, and the quality of life is generally pretty good (although the experiences of individuals with this syndrome varies): most of these women are living normal lives, albeit with a higher degree of medical monitoring. There's some more information on the Turner's Syndrome Society webpage - tss.org.uk/. I should add that I fully respect every woman's right to decide to terminate a pregnancy for whatever reason, however.

I hope that you get some definitive information soon, it is horrible to be hanging in a wilderness not knowing what the problem is.

I read these threads all the time and never post but I think maybe I will share my story today . We had a Nuchal fold reading of 3.2 mm during my 12 week scan 4 years ago. Following the bloods we were told we had a high risk for Edwards or downs . So we had the cvs which came back clear . On the basis of the consultants advice our baby was fine . Well he isn't fine .. Fast forward , he is 4 years old and has an unknown genetic condition . I do not know if it was picked up on the cvs and dismissed as it was not recognised or that it just wasn't visible but his genetics are certainly not typical . Now I will preface this by saying my son is the most amazing little boy .. He is funny and brilliant but he is disabled and non verbal .. So I guess the point in trying to make is that the initial issues at the first scan ARE relevant and that you should take advice based on what was there at the beginning . We have had a rough ride and will continue to do so and will care for my son until I'm too old not to . This is the sad truth of genetics , it's a newish science and it isn't 100% .... I do hope your outcome is good but take as much advice as you can .

Thank you offbeatgirl, kitty and bishboschone. Don't be sorry kitty - I know there are lots of people who could give a more positive perspective on Turners, and thankfully for many it is so, but for me the worst case is what we need to examine and see if we can think we can cope with it. offbeatgirl, thanks for the info - much appreciated. Completely understand that there is a spectrum in almost all cases here, and that's the most difficult part!

bishboschone thank you for posting. This is the discussion we keep having over and over, and that even the second phase micro array of the CVS won't be able to help us with. I keep thinking that this is the risk everyone takes when having children and that once major things have been ruled out then we're on a level playing field...but that's not really true, since we have a strong marker something is amiss. I have absolutely no doubt that we would love and care for our child very deeply as you do, but the reality is that once in this position you are taking a different chance to everyone else who has not had a raised NT and weird bloods. I could not and would not terminate a raised NT pregnancy where I am told 'everything looks normal', but my deep fear is that this means something is very much not 'normal' and we have no idea what the severity of that might be.

There will be a tragic relief in a firm diagnosis and extreme trepidation about anything else.

Thanks for your continued advice and information. It really helps.

I hope it's ok to add this. I have the same experience as Bishbos. High risk of downs, clear cvs, baby born seeming ok but he has a serious and very, very rare genetic condition. I felt something was wrong continually throughout the pregnancy, even after clear CVS. These stories are unusual though. Most people have good results and go on to have a healthy baby, or sadly categorically bad results. Wish you all the very, very best with whatever happens. As an aside our son, despite his problems, is the most wonderful and very much loved boy. Good luck!!! I hope you get a happy outcome.

Sorry the CVS didn't work Gary, we had the same, had to wait for amnio and it was torture. Our initial results came back clear and we were told we could breathe easy and it was probably 'just' a heart condition, but the full results revealed that she was actually suffering from a rare chromosomal condition so the whole process dragged out for weeks, really sorry that you're having to go through similar.

bishbos and swishy I'm so sorry you have to deal with your DSs being unwell. After we had our TFMR I had a healthy DS who has been quite unwell for a few weeks (just normal toddler stuff though they think) and having to spend so much time going back and forth to the hospital and the GP made me realise just how hard and draining it all must be for you. If our little girl had made it this far she would have been very ill indeed and I have huge admiration for the parents who must have to battle through some very hard times to get the best for their children xxx

Well said pizdets and thank you for posting. I'm sorry you had to go through this and so much more...this part alone has been torturous and I find it hard to really grasp how the next few weeks may pan out. So pleased you had a healthy (albeit currently poorly) DS. Congratulations!

swishyswashy of course it's ok to add your experience. I'm so grateful you have. I'm very sorry to hear things didn't turn out better for you, although it's very clear how loved your DS is. Thank you both for your lovely good wishes.

Have pm you swishyswashy

Hi Gary,

The chromosomal abnormality our baby was diagnosed with was actually Turners Syndrome. I had an amnio done at 14 + 5. The good thing about waiting for and having the amnio was it was a diagnosis and as 100% a result as you can get.

As others have said Turners Syndrome isn't fatal. In our case however it was but that was because our baby developed hydrops. And a baby developing hydrops so early on just doesn't have a good outcome.

Our consultant did tell us after a meeting and further scan with her that the scan wasn't good and in her opinion there was only a 10% chance our baby would be healthy. Even though this was low I was glad we had to amnio so we didn't have any doubts.

If you want to PM me for any info please do. It's such a heartbreaking time. You sound so strong. I know waiting for tests seems like an eternity but actually we found time didn't move that slowly while we were living week to week.

Thanks Bluebell. I'm afraid we will shortly be undergoing the same - the baby is a little girl with Edward's Syndrome. I had read a huge number of medical papers and could see that my blood values pointed towards Edwards, so we're a bit less shocked than we might have been. I can't pretend there isn't some relief in a diagnosis and also something for which, in my mind, there is really no choice to make. Hopefully I'll be able to get a termination booked in swiftly and we can begin to move on. I'll be back at some point with an update, but thank you all so much for your support and helpful words. It's really helped me through the last couple of weeks. I hope I can be as supportive to others xx

Sorry to hear this .. My cvs was because they thought my son had Edwards and like you I was in little doubt of the outcome . I wish you well .

I'm so sorry to hear this. How devastating. I know what you mean about having an answer though.

Feel free to pm me if you want a chat or have questions. I have almost exactly the same experience.

Arc are wonderful, later on, once she has been born and you have got through the following weeks, they have a fantastic forum for women who have had tfmr. Lots of us over there have experience of trisomies unfortunately.

So sorry to hear this news Gary. It's so devastating hearing the diagnosis but agree with you about there being a relief in having a diagnosis. You have a tough little while ahead, please be kind to yourself. It's ok not to be strong all the time. Thinking of you.

Gary I'm so sorry to hear this. Will be thinking of you, like Bluebell said, you don't have to be strong, be kind to yourself and you can be strong later. xxxx

I'm really sorry to hear your news Gary. Take care of yourself -I hope you are getting plenty of support

Hi everyone, I have been trying to find a recent thread about cystic hygroma and fetal hydrops and this was the most recent I could find. I am coming up to 17 weeks and my baby has cystic hygroma and fetal hydrops, this has been a horrendous experience and reading all the above posts I think you are all so brave, I am seeing the midwife tomorrow to check if there still is a heartbeat...... Thankyou for sharing your stories x

Hi Freshbread, sorry to hear about your baby's symptoms. it's nerve-wracking waiting for each checkup. I hope you get good news when you see the midwife today

Thankyou off beat, I wasn't sure if anyone was still checking this thread so Thankyou for replying. Baby has a strong heartbeat, fetal hydrops is still present but so far baby is fighting on. I will have weekly checks on Friday afternoons and the midwifery team are setting up a care plan for me covering every possible outcome, so we shall wait and see. I had my first experience of a mum approaching me and saying oh you're pregnant when are you due? Now that I'm showing it makes it tough x