congenital heart defect 23wks pregnant, amnio, miscarriage/termination q

[manitz]

Yesterday they did the anomoly scan and could only see two chambers of the heart and diagnosed and VSD. am being referred for a cardiac scan and amnio.

it seems from my reading that there is a 5% chance of a chromosonal abnormality of which it seems edwards syndrome is the worst. 95% chance that it is a heart defect without chromosone issues and it seems that amnio has a 1% chance of miscarriage.

I feel that I can cope with a child that has some quality of life, ie an operable heart issue or downs or ok but that I would terminate a child with edwards. Does anyone have any experience of
a) amnio - what causes the miscarriages?
b) miscarriage this late pg
c) termination at this point in pg?
d) VSD heart defect?

I would be really grateful for any advice as I want to go into my first appointment next monday as well informed as possible.

Hi, it's me.

Have just got back from shopping so am going to go through my notes for you. Don't know if there'll be anything of use but will let you know.

I'm sure there'll be someone on here who's got first-hand experience xx

No first hand experience but know 2 people who have found ARC to be fabulous in similar situations -

www.arc-uk.org/

Best wishes

is that snafu?

A lot more people will come along who will know a lot more than I do, but re the amnio, the 1% is an average across the whole of the UK, a good unit will have a much lower rate than that, and will be very happy for you to ask. Whereabouts are you?

I don't know what causes the miscarriage, but what no one knows is how many of these would have miscarried anyway.

And you have all of my thoughts and sympathy, I hope it all turns out for the best for all of you.

Yeah, 'tis me. Bored namechange alert

I am sorry you are having to cope with this, manitz.
I hope the scan shows that the defects are operable.
I had a termination at 24 weeks, as our baby had inoperable heart defects, and he would not have survived.
Please CAT me if you would like to ask any questions about it.

Oh Manitz I'm sorry you have all this worry. I would certainly have the same feelings about a dx of Edwards

Don't know about a), if bundle's around she might be able to give you some pointers, but wrt to b) have been through an induced stillbirth at 23 weeks and am very willing to answer any questions about how the labour and delivery might pan out

Sending you lots of love and hopeful vibes

I'm thinking of you and sorry i can't offer more advice. I would have the amnio though. Good luck with whatever you choose x

I'm sorry you have this to worry about manitz - It is truly stressful.
To rule out Edwards you would need the amnio

VSD can be repaired and ahs varying degrees
FWIw my dd (4.5) has Noonan Syndrome which carries congenital heart defect (pulmonary valve stenosis)dx'd at anomaly scan - as well as probable large VSD
We were also told that our baby had a large chance of carrying a syndrome but they did other checks and ruled out Downs.

We did not have amnio and decided to have the baby.
She was dx'd at 6 wks with Noonan Syndrome (not life limiting at all) albeit as she has grown she has it very mildly indeed.
Her Pulmonary stenosis has virtually gone, she had no VSD at all at 6 mths of age.
She is about to start school and asid from a view relatively minor issues she is perfect.

Try and focus on the positive figures in your post. Very good chance of baby being fine and and the amnio giving you good news.
The cardiology they can do now is nothing short of amazing too
take care xx

so sorry you are going through this. if its helps to know this, a miscarriage after an amnio is caused by infection getting into the amniotic fluid via the needle. this will cause spontaneous labour within a couple of days. i had an amnio with dd and was told the consultant doing it had not had anyone he'd tested miscarry. they swab your whole tummy, and the amnio pack is only opened at the very last minute so it is as sterile as possible.

wishing you all the best

hello Manitz, Marina very kindly alerted me to this thread. I'm really sorry you're going through this.

In my 2nd pregnancy I was classed as having a high risk of Edwards syndrome (I think it was 1/30ish), calculated from quadruple test. My nuchal fold was fine (low risk for spina bifida and Down's syndrome). I opted for an amnio as I would not have continued the pregnancy if the baby had had Edwards. A friend of ours had given birth to a little boy with Edwards (undiagnosed antenatally) and he died when he was 3 days old. This did influence my decision.

I didn't worry too much about the risk of miscarriage as my consultant did the amnio and she has a fantastic record, far less than 1% m/c. She was v reassuring when she did the amnio, saying my baby had lovely fingers (crossed digits can be a soft marker for Edwards & other syndromes) and in the end we got a good result, no Edwards and my 2nd daughter was born with no problems.

Reading your post, the 5% risk sounds low, but I'm sure it doesn't feel that way to you right now. I had a positive outcome, but feel free to vent/offload to me or the other posters who've had more direct experience of antenatal testing and its implications. Although only you can decide what is best for you & your family, you are not alone.

Thinking of you, xxxxx

I wish I had some advice but just wanted to say thinking of you at a difficult time.
My SIL had VSD and needed a heart transplant when she was 11; every case must be so different but she made so much of life despite lots of operations and did brilliantly at school etc... I'm sending lots of vibes for good results as far as possible - let us know how Monday goes xxxxx

Thanks very much for posting answers. I have catted you Nerdmagnet. Marina shall I also cat you since I have finally forked out the fiver? or can i ask questions on the board?

Piffle thanks for sharing your experience is Noonan syndrome a chromosone abnormality? Should I know more about it do you think? I agree that 5% is low which is why I initially wasn't sure if it was worth the risk of miscarriage if I had the amnio so wasn't going to have it. However having had a night to think about it I don't think i can go through 16 weeks and full term birth with the possibility that hte baby has edwards as I will go mad. I guess an issue is that the amnio will be at Northwick Park, which doesn't have the best rep.
I kind of feel that I'll be lucky if it's VSD alone with no other complications as it seems to be relatively easy to mend/live with.

Lucykate thanks for info, shall ask the consultant performing the amnio couldn't work out how to interpret the 1% figure, wondered if it might be needle accidentally hitting baby.

Bundle thanks also for telling me about your daughter. Do you know any other soft markers? I agree with you that I really don't want an edwards baby and am hoping amnio comes in clear.

Whichever you are happiest with Manitz. By CAT or on here, I will do my best to help

no it's not a chromosomal abnormality more a photocopying error on the genome they think.

But it is next to Downs the most common syndrome to be associated with a heart defect (Pulmonary valve stenosis the main one) but it often goes undiagnosed due to it's vague ambiguous traits

Hi Manitz

Sorry that you are having such an anxious time right now.

Would there not be other markers for Edwards syndrome that could be spotted on detailed scans? I understand amnio is the only way to know for sure.

My dd has a v rare chromo abnormality (5p deletion, duplication on 14q) I carry this, and another form of the translocation (deletion on 14q, duplication on 5p)which would be fatal. I did opt for CVS with my current pg. Like you, I was terrified about mc but I also did not want to face the agony of carrying an unviable pg to term.

For further information on chromosome abnormalities, Unique are a good support organisation. Their website is www.rarechromo.org Tel no +44(0)1883 330766.

FWIW - my daughter is an absolute joy (there are pics of her on my profile) She did not have any structural heart defects but I do echo what Piffle said about cardiology. One of my dd's friends from nursery has vsd and 2 heart chambers. She had surgery at a few months of age. Her family were expecting another op but that has been put off for time being as her doctors are pleased with how her heart is growing with her.

Wishing you all the best. If you want to talk on here or privately about chromo disorders, my dd, prenatal testing please give me a shout x

manitz, I'll check for other markers, can't remember off top of my head (dd2 is now 4)

don't worry about Northwick Park, btw, I visited there for work recently and it's had a total refurb plus the staff were incredibly nice. I think they've really turned the place around since they were put in special measures after what happened there, xxx

manitz - sorry that you have these worries.

A VSD is a simple hole between the two ventricles. I think your scan has possibly shown an AVSD which is different and sometimes (although by no means always) a marker for Down Syndrome.

AVSD is operable - there are mums on the message board at Heartline whose children have the condition, both with and without Down Syndrome.

I have no experience of Edwards or pre-natal diagnosis but my dd does have significant heart disease. Thinking of you.

Piffle, thanks maybe when I know more about the type of heart defect I might come back to you for more info if that is ok. Sounds like your little girl is part of the family so noonan isnt one I'd be so worried about. I'm more concerned about syndromes that would alienate the child from us or its sisters and not allow it to participate in life.

EJB thanks, I've found some markers via the Arc website kateyp recommended so am going to ask them to look at the scan for those before having the amnio. didn't realise children could actually be born with only two chambers, thought the radiologist might not have got a very good view. thanks that's reassuring. Have read up on surgery and sounds pretty good. I am a bit confused about the chromosonal abnormality (am getting confused with all the numbers) but it sounds like it doesn't stop your child being rewarding. When I get my amnio results I may well come back to you and will definitely go to that site.

Bundle I have quite a lot of faith in NP as it is really done up and looks v swish compared to homerton where i had the other two. It's just difficult to get its reputation out of your mind! As I said earlier I found some markers via the ARC site and am going to take it with me. NP are seeing me weds but Ive also booked another one at guys for monday as I've read a paper by a doctor from their fetal cardiac unit.

I'm currenlty not cancellng any appointments and I'd like to go to both (depending on what Guys say) to get a second opinion but not sure what NP will say when they realise I have the other one.

hi saggars...knickers what is AVSD? they wrote VSD on the notes. I'll try and search that forum but it's looking a bit foreign at the moment! thanks

Ok - have a look here for more details on Edwards, it's a bit technical but the main ones I've gleaned (and now remember) are: clenched hands, choroid plexus cysts, rocker bottom feet, and delayed growth. Also: heart defects, kidney abnormalities, omphalocele (intestines), esophageal atresia, and polyhydramnios (excess amniotic fluid). I remember my consultant also talking about how there can be disruption in the formation of the 2 hemispheres of the brain.

manitz, ikwym re: NP! I met a new mum there who'd known one of the women who died, but still had both her babies there.

Good idea re: Guy's, a friend's little boy had cardiac surgery there, she was a bit disappointed at first that there wasn't a bed in GOSH but in the end was v impressed by Guy's (her little boy didn't make it, but it wasn't down to the staff, he had a very severe defect).

Here you go

AVSD

VSD

Hi Manitz - can't help, but just wanted to wish you luck and strength.....