Higher reading for Nuchal translucency scan - feeling panicked!

[linspins]

Hi all, Just been for our 12 week scan today and had the nuchal scan to test for Downs. The reading was 2.8mm. They said this was high, but not high enough to be classed as high risk without doing a blood test. I had a blood test afterwards, but the results won't be in til Friday. I am just really worried now that there is something wrong with the baby. I'm 36, so no spring chicken, and had a heartbreaking time with my first pg, after severe abnormalities were diagnosed at the 20 wk scan and we had a termination. I have since had a healthy lovely little girl, but I'm scared again. Has anyone else had high nuchal reading, was it ok?

Linspins - I feel stunned just reading your news - I'm so sorry - how terrible for you. There is nothing I can say to help at all - so will just say you are in my thoughts and prayers.

Linspins, I am so sorry to hear your news. How cruel for this to happen to you and DH again.
Sending you lots of love and unMN hugs xxx

I am so sorry to hear this.X

Linspins. Am so so sorry to hear your news. I really don't know what to say. i hope you find some answers though. Thinking of you and your DH. xx

I am so sorry to hear that Linspins. I've been lurking and checked to see if you'd posted. It is just so unfair Thinking of you and your dh. So scary that these things can happen even when you and your dh were tested and nothing found.

Hi Linspins. I'm so sorry to hear of your baby's heart condition: have you been given a definitive diagnosis? I have a DS who was diagnosed with a very serious cardiac anomaly at 20 weeks gestation & we faced the same terrible dilemma as you. We decided to go for surgery (several of them over a period of 3 years) & he is now 12 & thriving. His heart will never work properly & we face (& have faced) many challenges, but I wanted to give you a possible glimmer of hope on this dark day. Have a look at the 'Little Hearts Matter' website, a charity which is set up for families with children who have single ventricle hearts - it sounds like your lo might have a similar anomaly. Sorry to be presumptous - I just want you to know I understand something of what you & your DH are going through; you are not alone.

Linspins I'm so so sorry to hear your news - we faced the same choices as you last year (similar degree of defects) and I know how heartbreaking it was for us, so for you to be going through it for a second time is just terrible.

Nothing much I can say to help as you know all the ins and outs, but wanted to say that we're thinking of you and sending you as much support and hugs as possible from down here in Bristol.

You know you have the strength to get through this, whatever you decide - just take it one step at a time.

xxxxxx

Oh Lins... I am so sorry things have turned out like this for you. My thoughts and prayers are with you and your family in this difficult time. Hopefully you will lean on us all for support

Tomorrow is the day of truth, to see whether I am a medical mystery, or just massively terribly unlucky twice. I had a chat with my local consultant today and she checked with the lab who said the full chromasonal report will be finished tomorrow. Just need to know what is says so we can plan what to do...
Still feeling really numb. I am so tired and drained, I don't have the strength to face this.
I wish I could be writing 'fingers crossed' that the report doesn't say there are chromasonal problems but either way the poor weeny baby has a grim outlook.
Off to bed, to toss and turn...

Linspins - another massively unlucky person here. Didn't want to depress you by posting before. Recently lost baby at 17 weeks - think waters broke - following nuchal of 3.5mm but 'clear' early anomaly and early cardiac scan. Waiting for PM results. Its shit being that 1 in a 100 isn't it.

I just wanted you to know that I'm thinking of you really. And you don't have to have to face this, or cope, or be strong in any way. Howl at the moon if you want to (I chose screaming into my pillow personally). Take any help you can get with DD but let yourself collapse if you need to. Hope the final report bring some relief, in that at least you'll have access to all the info available to you. Thinking of you.

So sorry linspins,thinking of you. x

Lins... how are you holding up??? Did you get your final results back?? Hopefully they will be able to tell you something that will help you in the future. Its hard to think ahead right now, but hopefully something positive will come of this mess. Be strong.

Today is my 19 week scan. I am hoping everything comes up fine with my little bean. I still have not gotten the final results back from my amnio. I just want all this over with so I can finally relax and try to enjoy the rest of my pregnancy (especially since this is the last).

anotherupdate
I waited ALL day for the phone to ring yesterday, and finally at 5PM it rang and the screening midwife said "surprise news, the chromasones are all fine, the report has come back clear".
So now we are left with no answers again...one baby had chromasonal problems, and a major heart defect...this baby 'just' has the same major heart defect.
It's either massively terribly bad luck or there is some explanation for the similarities that I don't know about.
We're seeing a genetic counsellor at Guys on Monday, and then will have further heart scans next week to see if anything has changed. I don't think they are expecting it to have improved, but obviously we will need every bit of info we can get before we make a decision.
I still feel very remote from what's going on, still can't really believe it.

THANKS EVERYONE for your lovely messages of support. It has really helped to log on and read them. xxxx

oh linspins I'm sorry the full report didn't give you any clear answers - it's such a tough time isn't it, negotiating all the information, someone once described it to us as a 'strange parallel world of statistics and risk factors' which summed it up quite well.

Hope you're managing to keep yourself together, just remember as long as you, DH/DP and DD can keep each other sane then you're doing pretty well. Everything else can just wait until some other time.

Sending you lots of support and hugs

xxxxxxx

Sorry to hear things are no clearer, Lins. I suppose it's something to at least know what it's NOT, but obviously that doesn't help the little one's heart.

Just wanted to send huge hugs and support to you once again. I hope next week brings more answers for you.

xxx

more news
Last Friday the phone rang again and the screening midwife said that the heart consultant in London had requested more tests at the lab, and that these had found a problem on Chromosome 22. Apparently there is a very specialized test called a FISH test that looks in detail at particular bits, and this found " the presence of an unbalanced karyotype with an interstitial microdeletion on one chromosome 22 in the band q11.2".

So we are back to the problem being a chromosomal one, possibly a syndrome called DiGeorge, but its not confirmed yet.
Things are now very complicated, as husband and I were genetically screened after the loss of our first baby from a rare chromosomal problem, and we came back clear. But this FISH test might be able to pick up something that we are carrying after all. And if that's true, there is a 50:50 chance of it happening again.

We are off for genetic counselling this afternoon at Guys hosp, and then have further heart scans and other scans tomorrow at Kings.

I guess by then we will have the clearest picture of all the things wrong with our poor precious baby. I am in so much anguish over this I can't even begin to deal with the pain. I talk about it like its happening to someone else, but at some point its going to hit me and I am so scared of that level of sadness and loss...AGAIN.

My toddler was stroking my tummy yesterday, and saying " hello little baby, grow well" - which is what I tell her I did when she was growing in me. The poignancy of it was unbearable. I just want to keep this little one with me and for her to be healthy and happy.
But that's not going to happen.

Gotta go before tears flood the keyboard.

xx

Don't know what to say other than I (and I suspect many others on here) are thinking of you and your family and sending the strongest good luck vibes that we can manage over to you all.

Linspins, I'm so sorry that you are going through all this. I was drawn to your thread as we also lost a baby at 21 weeks (termination) after he was diagnosed as having a rare fatal condition. It was only after the post mortem that we were told it was something called multiple lethal ptergia which I'd never heard of but we were given the news that we had a 25% chance of recurrence with any pregnancy due to the genetic make up of me and my husband. We already had one son and made the decision to try again a year later once we felt more positive. It was incredibly hard finding out I was pregnant but not knowing if the baby would make it, it wasn't as difficult as I thought because I was prepared and knew what we were up against. Fortunately for us all the tests and scans showed that our third little boy was fine and he is now 19 months old.

I know it hits you like a ton of bricks when you are told that there are genetic issues with any pregnancy, but if that is the case, take all the offer of help available so you have as much information as you need.

I am so so sorry you are going through this heartache again - good luck this afternoon and I hope you are getting good care. Give DD an extra special hug as this just all shows how precious she is.

x

Hi Linspins, I'm sorry that things are still up in the air for you all. Have you ever seen the episode of 'Something Specia' on Cbeebies where they visit a theme park? The little girl Nell has DiGeorge syndrome - she is the daughter of India Knight

Lins - again, sending you strength and hugs. I agree with Chooster in that you need to take all the help and support others offer. Hopefully all this new info will help you when deciding about future pregnancies. Don't forget, your LO does have purpose, even if she is here for a short time. Celebrate her and love her. Keeping you in my prayers...

Hi Lins, I'm sorry to intrude on to your thread, but I have followed it and I am sorry to hear of your worries.

My little boy has di-georges syndrome, he is my second child and is 5 years old. He, thankfully, doesn't have the cardiac problems but I know plenty of children with the deletion who have. He has had lots of other health difficulties however.

Myself and DH were also tested and found to not be carrying the gene but di-georges is generally a non inherited condition.

I understand you are going through a terrible time and have some impossibly difficut decisions to make so I won't say too much about my son, except to say he is a happy, thriving little boy. He does have some SN but attends mainstream school, with support and is just the light of our lives.

The maxappeal website is a site for di-georges syndrome and you will get lots of information there.

Thinking of you. x

p.s feel free to ask any questions.

max appeal for you

Dear SlightlyCrumpled, Yes, I've been reading stuff on the Max appeal site. I google stuff all the time to try to get a full picture.
Our little one's heart problem has been diagnosed as "Tetralogy of Fallot with Pulmonary Atresia" - it seems that it's the last part of this that is really worrying the cardiac consultant. She says that however many heart surgeries the baby had, she would still be left with lungs that hadn't developed properly in the womb. Tomorrow we are going for more scans to see if there is anything else they can spot.
I think it is the heart thing which will probably be the deciding factor.
Would it be ok to ask if you found out about your little boy's condition while you were still pregnant?

We saw the genetic counsellor today who said that although we have had two babies affected with serious heart problems and chromosomal problems, they are most likely not related, and she doubted that either myself or my husband were carriers...she reckoned there would be subtle markers that we might not know about but someone trained to recongnise it would see.
She took some blood for further screening though, just to check.

Thank you for writing to me, it must be hard to write to someone who you know is undecided, when your little boy is such a joy to you. Our own little toddler is our pride and joy, and this is such a hard thing to think about. The first time around, it felt much clearer...

Thanks for sharing.
Lins xx

Oh Lins, I truly meant ask me questions so no I don't mind.

No we didn't find out whilst I was pregnant. The scan (20wk) did show up soft markers particularly on his foot but nobody seemed overly concerned.

Sadly for my little boy we didn't find out until he was 4years old and had been plagued by very serious ill health all of his life, nearly all respiritory. Since getting the diagnosis and the correct medical team on board things are much easier for him.

I'm so sorry your baby has the such serious problems with her heart and the impact this will cause for her lungs, and also that it is not the first time you have been dealt such a cruel hand. I have met some of the children on the max appeal website that have had really poor prognosis and they are currently doing well. Obviously you would also have seen the stories that do not have a happy ending.

If there is anything else you want to know about the syndrome then please ask away. Whilst I wouldn't change a single thing about my little boy, (and I truly mean that) we found out when we already had him iyswim and I certainly don't sit in judgement, but would like to try and help.

x

Lins - just read the thread and wanted to let you know that I was thinking of you. I hope you are able to get a clearer picture of what is happening soon. Take care and very best wishes.