In complete shock,abnormalities on 20 week scan

[realnappiesmum]

Had 20 week scan today, showed nuchal fold at 9mm, all four limbs short and calcification on liver. Seen by obstetrician, repeating scan tomorrow. He spoke about chronsomal problems and syndromes. Didn't have information from today's scan about heart and brain but will look on 2nd scan tomorrow. Spoke briefly about amnio and other diagnostics tests, but will discuss more tomorrow after scan. Anyone had these show up on scan together, consultant said may be due also to viral infection but as three all together unlikely to be viral. Didn't say which viruses could have caused these. Husband and I heads spinning and in so much shock. Want to have some questions ready to ask consultant but just can't think straight at moment. Also worried about risk o miscarriage from amnio. Any advice?

I'm so sorry. That sounds worrying and I'm not surprised you're shocked. I hope the scan tomorrow brings positive news or at least some clear information about what they are worried about and what your options are. I will think of you tomorrow. xxx

That sounds like very difficult news to cope with. I don't know what to say, other than I hope you and your DH are alright and will think of you.

Realnappiesmum,
Sorry, didn't want to read and run...

We were given a devastating diagosis for DD1 following soft markers on a scan. A not-compatible-with-life chromosonal abnormality.

We had further testing (a CVS ? similar to an amnio). Found out a week later all was fine. DD1 is now 4 and starts school in September. She's perfect.

Soft markers are an indication, not a diagnosis. And different sonographers see different things.

I can't tell you everything is going to be ok with your baby. But you don't know anything for sure yet. I know how dreadful you're feeling just now. I wouldn't want that week of my life over again. It was the very worst.

Try and stay calm and take things a day at a time. Don't jump to conclusions. Don't, for the love of God, start googling stuff. Talk to your baby. Talk to each other. Listen to your consultant, and be guided by them. Try not to panic.

I really hope all goes well tomorrow... I'll be thinking of you.

db
xx

Thank you for replies. Don't think we will get much sleep tonight even though we are both exhausted. We have stayed away from Google for this evening. db,lovely to hear all was well with DD1. Does CVS have the same risks as amino?

I'm so sorry, no useful advice to offer but couldn't just log off after reading. :(

I was told the miscarriage risk from amnio is pretty small compared to years ago, altho we all still think of it as very risky the procedures have improved.

Only thing I can suggest is to ask consultant for a follow-up appt/email/call for after you've digested all the info and have figured out your questions, it can be too much to take in at once and Dr Google can be terribly upsetting if you can't get hold of your doc and research online instead. A friend of mine did this and wishes she hadn't, it didn't help to Google it. As db above, her dd turned out to be fine, despite the worst predictions of the docs.

Hope you get more information at the next scan, the unknowns are awful. Will also be thinking of you x.

Good luck today, as others have said, until you have something concrete, and unless you have something concrete there's every chance all will be well.
Will be thinking of you.

Just wanted to add my 2p. I think the risk of miscarriage from CVS is between 1-2% but I was told that part of that is because you have it earlier than an amnio. I didn't think you could have CVS after about 16 weeks anyway. Risk of miscarriage from amnio is 0.5-1% I was told. You can have an amnio right up to due date practically. I had an amnio at 16 weeks due to high risk of Down's & luckily all came back normal & I hope yours does too. If you decide to go ahead & have any questions please feel free to PM me.

I'm so sorry you've had worrying results, you must be very scared and shocked. Good luck at the appointment today. In my experience the consultants are very good at guiding and informing you. Write everything down because your brain tends to go to mush from the shock. Try and get the name of the screening midwife too so you have one named contact. I would also advise speaking to Antenatal Results and Choices who provide non directive advice and support, they are fantastic (can't link as on phone, sorry). And as others have said, try your hardest to stay away from Dr Google. Take care x x x

Realnappiesmum, the risks from ammnio/CVS also varies from consultant to consultant... If you've a good one it can be minuscule.

We were also concerned, obviously... But we couldn't contemplate going through the rest of the pg feeling like we did, and not knowing what we were in for. A week of those feelings was more than enough. So it became a non decision, really...

Really hope all goes well for you today and you get good news. Stay strong.

db
xx

hi i had cvs which i believe is similar procedure. noone told me you had to rest for 24 hours afterwards. I've never met anyone who has miscarried from invasive testing and i know it varies from consultant to consultant. Sometimes if it did happen you wouldn't know if it would have anyway.

I don't know if you have already googled, I had to when I was in this position so I expect you have. Here is a link to a pdf file from the NHS about increased nuchal fold at 20 weeks (its 11 down, ignore the rest they seem to just be questions). It says that increased nuchal fold is over 6mm at 20 weeks. You are over that, it also says it's only seen in 1% of babies and the majority of those are normal (for want of a better word).

Because it is only 1% they will probably do further investigations automatically but it does not necessarily mean there is something wrong. can you ask them what they mean about short limbs - how short? and I suppose the liver calcification may mean something or may not, I don't know anything about that I'm afraid but arc may help.

Personally I found it best to prepare for the worst but not to worry myself sick, just find out what the worst was and then work out how I would cope with it. Unfortunately I was right to do so.
I hope the second scan is more reassuring.
x

Really feeling for you because uncertainty and waiting are unbearable in these circumstances - I know because we were told of 2 'soft markers' at our 20 week scan.

Is the calcification an 'echogenic locii'? If so afaik, these are harmless and occur as often in babies with no problems as babies with various conditions.

Also, 'soft markers' actually means soomething like 'unproven inconclusive links that we are observing and monitoring'.

Amnio will be an option if there is a suggestion of chromosomal condition, and whether you choose to have amnio will depend on what your likely reaction to news of a chromosomal condition would be.

Are you in London? If so could you get a referral to the Harris Birthright Centre at King's which is one of the most advanced feotal scanning and consultant units in the country?

We were scared to death after our 20 week scan with talk of a range of non-viable trisomoies (chromosome abnormalities) - in the end DS is a happy lively child who just happens to have a non-standard leg (talipes and one short leg).

It's very distressing for you, not knowing exactly what is happening, and whatever the news from further investigations, I wish you the best.

oh sorry, i didn't put the link on:
www.google.co.uk/#hl=en&gs_nf=1&cp=15&gs_id=6h&xhr=t&q=nuchal+fold+at+20+weeks&pf=p&sclient=psy-ab&oq=nuchal+fold+at+&gs_l=&pbx=1&bav=on.2,or.r_gc.r_pw.r_qf.,cf.osb&fp=fb5f5b559694663c&biw=1280&bih=587

try again for you

Nope sorry can't get it to work

Op I am really sorry you are going through this. Thinking of you too xx

it works couldnt link direct to pdf so is google page 11 down. if not just google nuchal fold at 20 weeks. i have cut and pasted:
An ?increased? NF is where the distance between the skin and the occipital bone measures greater
than 6mm in diameter at the 18+0 to 20+6 weeks fetal anomaly ultrasound scan. Unlike NT it should be
measured in the transverse plane at the level of the cerebellum.
Isolated and increased NF is seen in less than 1% of pregnancies at 18+0 to 20+6 weeks gestation and the
majority of these have a normal outcome.
The majority of fetuses identified with an isolated and increased nuchal fold of more than 6mm at the
mid-trimester scan are normal.2 An increased NF can be associated with:
? chromosomal or genetic conditions
? congenital heart abnormality
? other conditions which may cause hydrops fetalis
How common is it?
What causes it?
It is important that the woman is given clear information about what has been found at the ultrasound
examination. Initially, this explanation will be given by the sonographer who undertook the scan.
Information should be given in a staged, non-jargoned, unhurried and sympathetic manner. The woman
may be shocked or upset and, for this reason, might not absorb what the sonographer says. She should
be offered an information leaflet about the finding which she can take away and read in her own time.
The woman should be offered another appointment to see her obstetrician (or midwife) to further discuss
the findings and then referred to an ultrasound specialist and/or fetal medicine specialist for a more
detailed ultrasound examination where further tests such as amniocentesis may also be offered.
Contact information about agencies that can provide external support such as Antenatal Results and
Choices (ARC), should be offered to the woman.3
Care following the ultrasound examination
Antenatal Results and Choices (ARC)
ARC provides impartial information and individual support to parents whether they are going through
antenatal screening or whose unborn baby has been diagnosed with an abnormality.
73 Charlotte Street
London
W1T 4PN
Helpline: 0207 631 0285
Email: [email protected]
Website: www.arc-uk.org

sorry it's long

Manitz, thank you for above informtiom. back from scan and seeing consultant. Scan shows increased fluid also in pericardium around the heart and that it is slightly rotated. Structure looked okay though. Body in proportion but small and facial features appear flat. He is leaning towards Down's Syndrome or Turner's syndrome but still not ruling out more serious conditions. Seeing him again next week and will probably do amnio then. Didn't want to rush in to amnio today as DH and I still reeling from the news and needed some breathing space over the weekend to take it all in. Also need to work out how to tell our 5 year old DS about the news that baby has problems as he is so so excited about baby. Where do we start??
Consultant and midwife at clinic both wonderful. Told us about ARC so may have a look on their website.

ok. I can tell you my experiences if it helps with ds etc. I had a termination at 26 weeks 5 years ago this july - actually just realised 5 years ago today, maybe that's why i'm hanging around a bit more atm.

dds were 4 and 2. they knew i was pregnant and they realised I was having tests. Explained to the four year old that there may be a problem with the baby who may not have all it needed to stay alive outside the womb. She had a hypoplastic right heart so it was the truth and I was very factual, I didn't explain and nor was I asked about abortion/termination. They were very matter of fact about it. I had a second termination at 14 weeks when we found that our baby had downs in 2010.

Obv you may take a different route than we took. Whatever you decide, particularly if you keep the baby and it has downs, the downs association website is fantastic and I'm sure it has advice and support for preparing for a baby with downs. Turners is less obvious I believe so it may be that you don't need to talk about it but I haven't looked into it in depth, thought my second baby might have that as it had hydrops but CVS showed downs. Whatever you do I think it is a good idea to keep explanations simple and as truthful as possible. I don't volunteer information but answer questions as and when they come. Sometimes I say 'I'm not sure but I'll find out and let you know' to give myself time to work out the best way to explain. Whatever happens I'm sure you will work out what is best for your family and it will be ok in the end but it might take a while to get there.
feel free to pm me if you want to ask any more, off out now will check agian this eve.

I hope you have strength over hte next few weeks. x

Hi RNM, I'm so sorry to hear that there may be something wrong with your little one.
I don't have any advice really but wanted to bump this for the evening crowd as there will be a lot more people with similar experiences out there xx

Glad the consultant and midwife were good but sorry there is still reason for concern. I think you are doing exactly the right thing, giving things time to sink in and not rushing into any decisions. I'm sure your little boy will be fine with a simple explanation that you are worried that the baby is not well and having some tests, as manitz, says. Good luck with the next stages.

Manitz, I'm sorry to read about your losses. Very very sad.:(

Manitz I am also sorry to hear about your losses. Thank to everyone for replies. Spoke to friend tonight who had met a young woman through her work with Turners. She was married and led a normal life. Started to introduce the fact that baby maybe unwell to our son but I think he was too busy watching Ben 10 and not really listening. Planning a a day out followed by family movie night at weekend so may talk about a few things then.

Thanks scummymummy and realnappiesmum. sad but part of my history now and have had two other children since - not meaning to hijack.
My kids drip fed questions to me and are still occasionally asking the odd question now 5 years later and although quite interested it was quite abstract for them. the first situation was far more of an issue and more questions. I just try not to lie, I would like my children to understand so that if they are ever faced with a similar situation themselves they realise I can be a support to them.

I have heard similar things about turners. Not sure if you have searched for threads about this but this thread has a lot of views about turners including posts from a girl with turners mosaic and I think I would find it reassuring if it were me.
www.mumsnet.com/Talk/antenatal_tests_choices/1175618-Amnio-results-reveal-Mosaic-Turner-Syndrome-seeking-support-from-parents-of-daughters-with-TS-MTS. hope that works am terrible at links.

Thank you for link. Will look when mind a bit clearer, not coping very well tonight. Worried about fluid around the heart getting worse, haven't hardly slept for past two nights and worried that exhaustion, stress and all the crying will be affecting baby. Don't want to make things worse by putting extra stress on her by me getting so upset. I have read that stress can affect unborn baby.

i am so sorry I forgot how all-consuming the worry is after diagnosis. take care of yourself.

Realnappiesmum, thinking of you today. Hope you get some good news.

db
xx

Thank you db.
Not having amnio until Wednesday. Rang clinic this morning to see if it could be done today but no drs available today or Tuesday.
Not coping very well. Exhausted from lack of sleep, keep breaking down in tears. Spoke to midwife as I am worried upset will put extra stress on baby.
Reread scan report and it mentions that there is a moderate septated cystic hygroma as well. Made the mistake of looking on Dr Google and doesn't sound very good. Don't know if anyone has experience or knowledge on these.
Forgot to say in original post that at 12 week scan couldn't see nuchal fold due to baby's position. Decided against getting bloods done.