Suspected Edwards syndrome

[Sid79]

Hi, I'm 20wks+6. Can't believe I've signed up to this site and am posting a thread. However have read many posts and found useful in past and now need help from anyone that has been in similar situation as me.
Went for 20 wk scan yesterday which took a very long time but basically markers of Edwards syndrome identified which alongside my 1:5 risk already identifies ties from bloods has suddenly rocked mine any husbands world. Can't believe how everything has just changed in the space of one day. Have been called back to see consultant again later today as was very upset and in state of shock yesterday. Have been googling most of the night which I know is not the best thing to do but needed more info. Our baby girl has been identified as having a strawberry shaped head, some cysts on brain and problems with heart. Have read many sites which state usually end up in miscarriage, stillbirth or babies die very shortly after (without going into too much detail).
Basically hard coming to terms with this but do not want my baby to suffer. Understand some people have terminated but some part inside of me (inc beliefs is opposed to this). Basically want to know if anyone is similar situation as me miscarried naturally and if so at what week? This is baby number 3, have two teenage boys and although unplanned I had so many plans for this baby. Everyone was so happy inc myself that I would be having my own little baby girl. Also worried about the effect it will have on my boys- we haven't told them anything yet. Can't stop crying and am sure anyone in similar situation will understand how I am feeling. X

Apologies for typos

I'm so so sorry you're going through this. My baby had Edwards which was spotted at the 12 week scan and a late CVS. I chose to terminate at 14 weeks as I couldn't bare the thought of waiting to lose him and knew he wouldn't live. I completely understand why someone else may have a different choice though. So sorry :-(

So sorry for your pain, I have no personal experience but just didnt want to read and run. My friend miscarried at 21weeks her baby who had Edwards Syndrome, she also had oligohydramnious. I hope the appointment today gives you the information you need. xxx

I’m so sorry that you’re going through this.

A few years ago my friend’s daughter was born with edward’s syndrome, nothing was picked up on scans, and she lived for 28 days. My friend would not have given up those 28 days with her daughter for anything. It gave her time to come to terms and say goodbye.

I don’t know if the fact it didn’t show on scans and how long she lived were linked. I would have thought if complications are seen on scans, there’s less chance of the baby living for long.

Whatever you choose to do, it will be the right thing for you. Talk about it, cry about it, the consultant may have some more information that will help you decide.

I don’t mind talking things through with you if you like.

Thank you so much all of u for ur replied. Can't stop crying as I read through ur posts. You don't realise how hard situations like this are for people until you go through it yourself. Wouldn't wish this on anybody.

Hi Sid,
I am so sorry you are facing this. Not quite the same but I was carrying a poorly baby (not growing properly - problems with placenta,) identified at 20 week scan - he died a week later and I had to go through the birthing process etc.
It is a tough decision to have to make - I know someone who went through with giving birth to their baby with Edwards syndrome and the baby died shortly after birth; it is a tough call either way...all you can do is make the best possible decision at this time and it will be neither right or wrong. So sorry, I hope today's appointment helps in some way and provides further information x

There was a lady on here who chose to continue with her pregnancy upon receiving an Edwards Diagnosis and I believe the baby lived for a few months. It was the right decision for her. If you Google Rumer's Rainbow you should be able to find her blog.
Good luck with whatever you decide. I'm so sorry

Im so sorry Sid :(

Rumers parents are amazing, they never stopped fighting for Rumer and although her life was so short the work her parents did to fight for her will impact on future babies born with Edward's.

There's a brilliant facebook group you can join, pm me and i'll ask for you to be added if you want. You might just see some stories of babies that give you some hope or at least a place to talk through your fears with parents who are going through it too xx

If you are interested in seeing a positive story have a look on Facebook for Alexander the Great Trisomy 18 Story.

I echo the PPs advise to let yourself feel whatever you are feeling, it’s ok to cry, to grieve and it’s not a reflection on your feelings for your child - don’t feel guilt, be kind to yourself and to your husband. Keep posting if it helps x

Thank u. Just at the hospital now. Couldn't bear to sit in a room so sitting in waiting room to be scanned by the doctor again before we discuss what has been found. Can't believe how hard it was walking through the normal scan section to go to fetal medicine section. x

My sister had a little girl who was diagnosed with Edwards early in the pregnancy. She decided to continue and my niececlived a couple of months after birth.

It does depend on what additional medical complications there are but some babies with Edwards live into and beyond toddlerhood x

Handhold, so sorry for your news. Again, echoing the other posters, you do what's right for you xx

My sister was born with Edwards six years ago and survived 9 weeks. My mum then had a still birth with a second baby who had Edwards at 26 weeks.
I’m sorry to hear your going through a tough time, but you have to do what is right for you.

Oh so incredibly sad, OP. I know your terrible pain. It's impossible to put into words but I still remember the sheer agony of dealing with our dreadful news.

We chose to terminate.
I joined the ARC (Antenatal Results and Choices) forum which was a safety net held together by the angels. I'd have drowned without that support. Those parents were a real lifeline and gave me strength I didn't realise I had.

You can look at the ARC website for information and join the forum if you decide not to continue with the pregnancy.

Hand holding all the way.

I'm so sorry op.

We lost a baby girl to spina bifida in 2016 at week 22 of pregnancy. We , like you , had our hearts broken at the anomaly scan and had to make a decision to have a tfmr or continue knowing that what she had was the worst of the worst.

Please pm me if you want to know anything regarding tfmr or what happens afterwards to your baby. Nothing is too personal so please do just ask.

Please take care

I’m afaraid I don’t know too much about it but. Friend of mine had a baby with Edwards. She’s spent a lot of time in hospital (but is now home) and had a few ops but she’s now 18 months old!

Thank you to u all for ur replies. Absolutely shattered right now. Can't believe it's only been a day since all this started. Been through so many emotions and tears and feel like everything has been turned upside down during such a short amount of time.

Consultant and fetal midwife at QMC were absolutely amazing. Cannot praise them enough for their support, empathy and kindness. Basically consultant did another scan and talked us through what she was noticing. She confirmed our baby has a strawberry shaped head and cysts on the brain. Was told if it was just these 2 markers then they probably would not have mentioned anything yesterday as would assume all would be ok and cysts would eventually sort themselves out and burst. However, the painful truth was to find out she does not also have left hypoplastic heart but in actual fact has a hole in the heart alongside faults with her chambers- only has 3. Have been told that the hole and damage will only get worse as she develops in my womb. This alongside the other 2 markers makes it very likely that she has Edwards syndrome.
Such an agonising and painful thing to hear especially knowing that I will either miscarry, have a stillbirth or she will be born and leave us but suffer too along the process. No words to describe what we're going through.
Was dead against having an amnio prior to to today's appointment but at that time whilst speaking to consultant-It made sense. I am already at risk but at least this will confirm it for sure rather than having doubts about making the right choice. The consultant was fab and reassured me after learning about my phobia with needles and kindly offered to come in on her day off tomoro as I didn't feel quite ready to face carrying out the amnio on the same day. She has also referred us to Leicester Royal infirmary to have an echocardiogram of baby's heart and they will also be able to give us more specialist and detailed info about her problems. Still a long rollercoaster to go through but just wanted to share my journey in case it helps anyone and to also receive ur kind support and advice from ur own experiences. Will keep u posted.

So sorry you're going through this. Must be a nightmare.

Apologies in advance if too much info but just writing things down in this post knowing somebody who has some sort of link with what I am going through helps me.
Haven't slept a wink these past two nights. Can't stop randomly crying. Have moments of strength when talking to my husband, who is amazingly supportive and my rock at this moment, despite him feeling the same emotions and as though his heart has been broken too. We are just dealing with each situation and choice that we have to make based on what is the 'least worst option' or what we feel is right for our baby girl.
At the moment, just trying to determine exactly what's wrong and even this is so painful.
Every time I try to be strong, thoughts come into my head. Like I would be sending my letter to say I am going on maternity leave on this date, I was going to have a baby shower with my brilliant colleagues who know how broody I got and would fondly exclaim how much I wish I could have one whenever it was somebody else's. But would then say I'll never have one as I have left it too late with the age gap of my teenage boys. Everyone joking how I was finally going to get one and everyone was so happy for me but now won't be.
Also knowing the fact that I will have to face the date when I should have been going on maternity leave for a year, having to to face the date when i expected to give birth to my beautiful, much wanted and loved baby girl. So many things to mention.
Broke my heart yesterday when coming back from the hospital and I got an email notification from 'The bump' app and 'Emma's diary' app stating the usual 'This week ur baby is... and what you need to do and expect' etc. I used to so look forward to each weekly update, reading what size my baby is etc but now knowing I may not reach full term and I will lose my baby girl is beyond words can describe.
Don't know how I am going to deal with this and whether I am strong enough.

Sid79 - I'm a few weeks ahead of you, currently carrying my wee baby girl who we found out at 20 week scan had Edwards. Like you, we were reluctant to have amnio but she had quite a few markers and we felt we needed to know for sure. I'm currently 31 weeks and we just don't know what is going to happen. Our consultant has been fantastic. Feel free to pm me.

I'm so sorry Sid, what you are going through is just the cruelest thing. Just remember that whatever decision you make - to continue or not, palliative or full intervention, you will make the rifht decision because you are the people who love this baby unquestionably

Thank you. Two small words which don't really show how much or great the value of ur support means to me.

Hello, not quite the same but my baby was noticed to have many heart defects at the 20 week scan and his chance of a chromosome abnormality was increased to 1in5! He had no other markers they could see but told me chances were high, I was offered to terminate multiple times but decided to have the amnio and it came back clear, my baby’s heart had both vessels in the same side, had a hole in between the two bottom chambers, the side with no vales was expected to become smaller or die off as not too much blood was going through the hole into there, the pulmonary was large causing too much blood To go to the lungs and the aorta was very thing and had a high arch which was expected after birth to get extremely slim at the arch point. I decided to continue the pregnancy knowing my baby would need immediate medical attention at birth. It was awful watching him be born and struggle to breath, he was taken away at Just minuets old to be stabelised and moved to a heart hospital, he has been in an out of that hospital having open heart surgery’s and he also suffers from seizures, more tests were ran similar to the amnio but nothing was found once again. He’s 1 now and doing well but it has been so hard. You have to do what you feel is right x

My daughter Rumer was diagnosed with T18 (Edwards) at 23 weeks gestation. We chose to continue the pregnancy and fight for treatment.

Sadly we didn't get as good treatment as we hoped or thought we did and there are many things we regret or would have done differently which would have likely led to a longer life for Rumer but she lived three months (survival is improved with treatment)

On the subject of hypoplastic left heart and single ventricle heart defects this is a very common diagnosis in trisomy foetuses in mid pregnancy but almost always resolves by birth. I know of one child with T18 who was born with HLHS. He had his first surgery but didn't make it. Of the others (12+ including Rumer) the baby ultimately had more mild heart issues (ASD, VSD, PDA) or in a couple of cases none at all. This was despite being given a devastating prognosis in mid pregnancy. There is a very recent study that suggests heart surgery improves survival for infants with T18. Unfortunately we didn't have this with Rumer.

If you decide to continue, there is a very high rate of stillbirth due to placental failure (over 50%) good pregnancy management and monitoring can reduce that risk considerably

I'm very happy to talk via PM if you want. This is my Rumer.