confined placental mosaicism edwards' sydrome

[emmaemace]

Hi all
I wanted to share my story as 4 months ago I spent days searching the net for stories to give me hope that my baby might be one of the tiny minority who would survive a positive NIPT test for Edward’s Syndrome. I hope my story might give a small amount of comfort to someone else waiting agonising days for precious test results.
My husband and I tried for a baby for a year and were absolutely delighted when the two lines finally showed on the pregnancy test. This is a second marriage for us and we both have two children from our first marriages. This was our bonus baby. We knew the risk of Down’s syndrome was quite high as I am 40 years old but had agreed that we would take the risk and knew we would not terminate a downs baby.
We went with excitement and trepidation to the 12 week scan. All looked good, the nuchal translucency was 2.60mm and I was actually 14 weeks pregnant. We went home pretty confident that our baby was healthy. Two days later I received a phone call to say my blood tests were back and the PAPP-A was very low (0.20 MoM), this increased our risk of down’s to 1:25. I was upset and wanted to know for sure whether our baby had downs or not, but I didn’t want an invasive test as I wasn’t prepared to terminate. We were offered a NIPT, although a screening test, it would give us a result of over 99% accuracy.
We went the following day for the NIPT. It was to be sent to a new lab at Great Ormond Street and the result would take 7 – 10 working days. We were anxious but carried on with normal life whilst we waited for the result. After just over a week, they phoned to say the sample had failed and they were unable to get a result either way. They would have another go with a second sample, we would have to wait another 7 – 10 days. We were dismayed at the thought of a further wait but felt we had little choice. After just over a week they phoned to say the result had come back as very highly likely our baby had Edwards’s syndrome! This was devastating, unlike down’s there is no hope for a quality of life for our baby. Both my husband and I knew our only option was to terminate. We went to the hospital the next day expecting have the result confirmed by a scan. As I was now 17 weeks pregnant the consultant said she would expect to see soft markers and there would be no need to have an amniocentesis and delay the inevitable any longer.
The scan was a silent agonising what seemed like hours. I asked the sex of the baby as I wanted some connection before the end. It was a boy and the consultant couldn’t see anything wrong with him. His head was the right shape, he was the right size, and the brain was formed, as was the abdominal wall. His feet and hands appeared normal, and he even opened his hand, normally an Edwards’s baby would have clenched fists. There was hope! A 0.3% chance the NIPT test had given us a false positive. We agreed to an amniocentesis to confirm either way whether he had Edwards’s syndrome and it was performed then and there. The result would take 3 working days.
This time there was no carrying on with normal life. I sat and sobbed for 3 days, neither of us could go to work. I trawled the internet for stories of hope and found one in America but little other comfort. Then the hospital phoned with the news. They had caught some of my blood in the amniotic fluid, the result would be delayed another week! We were now numb with pain and I can’t really remember much about that week.
Finally we received the result, the amniocentesis was negative!!!! I screamed with joy down the phone, I can’t describe the feeling of ecstasy. He was diagnosed with confined placenta mosaicism Edwards’s syndrome. The outcome was now expected to be very positive. There may be some issues with growth and I would be monitored carefully as there was a chance the placenta would not nourish him enough for the full 40 weeks. I was told to take a low dose aspirin every day and return the following week for the 20 week scan.
Today I am 36 weeks pregnant and have just had my 6th scan. All is looking very good, he is growing well and I am booked in for a caesarean at 39 weeks. I can’t say that I’ve been able to relax and enjoy the last 17 weeks as I don’t think I will truly be untroubled until I hold him in my arms in 3 weeks’ time.
I hope my story gives someone else a tiny bit of optimism when all there seems to be is despair.

Thank you so much for sharing your story. Wishing you a happy last few weeks of pregnancy until you get to hold your precious boy

this has actually made me cry! what a stressful time for you, but so happy that you got a happy ending. very very very best wishes for your c-sec in a couple of weeks! x

Bless you, that made me cry.

Wishing you loads of luck and much happiness with your beautiful baby boy xx

Made me cry too. What an agonising time for you both. Wishing you joy with your new baby in a few weeks time. .

This has made me shake and cry at the memory of being in the same predicament 2 years ago, thankfully I have just put my gorgeous Trisomy 18 free 17 month old down for her nap.

We lived in America at the time, and had just got back from Scotland where my dad had just been released from hospital after having a heart attack and subsequent triple heart bypass. I thought our stresses were over for the year. 2 days on the Friday later i got the phone call from the doctor to say that our baby had increased risk of having T18, and was told to Google the syndrome so that I could understand it more. I did, and I crumpled in to a massive heap of heartbreak. I had to phone my husband at work and try to get he words out that he needed to come home now, he was crying on the phone as I wa trying to explain that our baby might have the possibility of not making it to birth. It was the longest hour for both of us as he made the commute home.

We both sat trying to comprehend what was happening, and made an emergency appt with our gyne/doctor for him to try and explain things, and what made the tests show that our precious bump might have something terminally wrong.

Since it was a Friday, there were no appts until the following week to go for the further tests and scans, and that was the worst weekend of my life. I'm shaking at the memory of all that heartache and 'what ifs'. When we got to the hospital for the tests, we were sat down and told that since we were so far along that we would have to decide whether to terminate immediately. It was fucking awful.

Went for the scan, never felt fear like it, my baby had wriggled and wiggled inside me for so long, I couldn't bare the thought of anything other that everything being ok. The ultrasound technician had a good old look, in silence, and then told us that everything looked ok. The relief was second to none. We found out we were having a girl a healthy viable baby girl. She arrived safely 20 weeks later.

However, the last 20 weeks were tough. I turned off my emotions, to almost protect myself from any further pain. It meant that I couldn't bond with my girl when I first saw her, and months went by where I was just functioning enough to keep us all alive. It was only coming home in the last few months that I was diagnosed with PTSD and anxiety, and been able to feel that my girl is going to live a normal life and I have properly started to bond with her. She is my life, but I will never forget the pain that we might never have been able to meet her, or keep her in the world for very long.

Please take care of yourself, there will be days when the grief of the possibility of ES will overcome you, I don't think it ever leaves. Wishing you a wonderful day of welcoming your happy healthy boy in to the world, he sure has a mummy and daddy that loves him xx

You must have had such a stressfull time, hope things are looking up !

What amazing news for you.

I know how you felt those days and weeks waiting.

We weren't lucky enough to get a negative amnio, saying that they also found 5 soft markers so not surprising.

I can imagine the elation of being told your baby had T18 then finding out they didn't.

Enjoy your little boy, I imagine you'll enjoy him even more knowing how close you came to not having him. Xx

Fantastic Op. I'm thrilled for you! Hope everything goes well now! Enjoy your babe!

Really happy for your outcome ! What an incredibly stressful time for you both..,,

I hope everything goes well but can I say that having Edwards syndrome does not always mean no quality of life.

So glad it ended well for you!
Have to say though that the NIPT test is notorious for giving a false positive result for trisomies 18 and 13, just because of the fact that they are rare conditions. Just because the test comes back positive doesn't mean your baby actually has it. The positive predictive value is something else than the test result.

thednaexchange.com/2013/07/11/guest-post-nips-is-not-diagnostic-convincing-our-patients-and-convincing-ourselves/

If it had come back high risk for T21, then I'd believe it (with your age) as the positive predictive value for your age for T21 means that with a high risk result for T21, you have a 90% chance your baby has T21. But as I said, for the other trisomies, that's not the case.

I'm 35 and pregnant with our third DC. I also had the NIPT done at 10 weeks just for peace of mind.

Wishing you an easy labor and delivery and enjoy your baby. :-)

Justusemyname do you have a baby with Edwards?

Justusemyname - that might have sounded a bit aggressive, I didn't mean it to be. I'm not interested in a tfmr vs ctt debate.

I'm really interested to hear from a parent who has had a live baby with Edwards. I guess I want to hear a 'best case' scenario if that makes any sense at all.

My son was thought to have had Edwards and we carried on with the pregnancy.

I read a lovely article about a nine year old girl with the syndrome. She certainly had quality of life!

Did he not have it in the end? Did you end up with a false positive or you didn't have invasive testing?

Please don't feel you have to answer my questions I guess I'm asking as part of processing my loss.

Our dd2s diagnosis was incompatible with life, she had pretty bad brain defects and terrible issues with her heart. I know our excision was the right one for her.

However, my risk factor for T18 is now much higher than the average population. I guess part of processing that is hearing/reading 'happy ending' (if that's ever true of a baby with Edwards) stories.

Sorry to derail a happy thread.

I refused all tests and just had scans. I had already lost a baby and then lost a twin so wasn't prepared to have anything invasive that risked this baby as well.

I'm glad it worked out well for you x

Kitty. Best case scenarios are if the child is a mosaic with a lower contribution of abnormal cells. Think of it as 'diluting' the effects of the trisomy. The median survival is 5 days- 2 weeks ish. There are a small percentage of children who live longer - roughly one or two percent make it to ten years of age. I think the oldest survivor I'd heard of was in his early 20s, but that is very, very rare. Obviously those children who live longer have a less severe phenotype and yes, it's fair to say they do indeed have some quality of life. However, they are the exception, not the rule.

(Geneticist by training, first hand experience of Edwards syndrome, unfortunately of the more severe type, fatal in the neonatal period.)

Skipton thank you for that.

I did lots and lots of research when we found out but it was mainly Internet based which I know is often skewed one way or another.

I read research papers and didn't understand them

Our dd2 had full T18 and the doctors and geneticist were surprised she'd got to 22 weeks. They said they doubted she would make it to full term.

All of these things I know. I don't know why I chase the 'happy ending' stories. I know our dd2 would not have had that.

Still, all that said, your post has actually made me cry with relief. That was obviously something I needed to hear. Thank you (and thank you as a geneticist for being so skilled and able to give parents a choice if they choose the testing)

Awww lovely outcome good luck with rest of pregnancy xx

Kitty . Your post moved me. How lovely to thank someone for writing a few words when you have had such a tragic loss. Just read that back and it does not sound how it did in my head.

Thank you just, I understand how it was meant :)

I made a point of writing to both the hospitals that dealt with me after I had dd2. It has been heart wrenching and tragic but it has also been made so much easier by wonderful professionals (like skipton) who have been with us through the whole thing.

I live with this everyday, I wouldn't change having had her. But people like the doctors and professionals I met deal with parents like us day in and day out, it must be heart breaking. They're so strong and still made me felt like they honestly cared about me and our baby as individuals not just another patient.

For that I am eternally grateful.

You're welcome kitty. Can I just say as well, that nothing you did caused this - we humans are just rubbish at segregating our chromosomes, we really are terrible at it for some reason. It's random, and nothing you did or didn't do would have had any impact whatsoever. Nothing you ate/drank/did etc.

I'm sure you know that, but I wanted to say it because I have had experience of the mother being told otherwise by people. It really affected the mother in question and if I'd have been there I think I'd have come to blows with them.

I don't work in hospitals ( you have to be a medic with a genetics speciality to do that and I'm more into basic research, in the lab. I was the one writing those impenetrable papers...) I'm a phd scientist with a reasearch career in human genetics and development and now I work in clinical trials/drug development.

I'm so sorry you went through that. It is absolutely heartbreaking. It's natural to chase the happy endings - sometimes it's our optimism that keeps us going. We scientists who work in research and drug development never forget that at the end of it all are patients and their families. It's what drives us.

Thank you again skipton.

I have been told numerous times that it's nothing I've done or could have prevented but people at the hospital. It's still good to hear it again though. I guess the human brain desperately tries to find reasons for something like this and it's very easy to blame yourself.

Medical geneticist or not all you guys help people like me by giving us knowledge and options to make the best decision for our babies.

It's interesting that you say humans are rubbish at dividing up our chromosomes, I've not heard it put like that before but it does help me realise that it's part of being human rather than it being something specific to me and my body being rubbish at it.