trisomy 13 or 18

[Hopefullyhoping]

After a long few days of lurking, I've decided to take the plunge and post to see what words of wisdom you lovely ladies can offer. At our 20 week scan, the so no graphed detected a cleft lip, small head and problems with the heart and kidneys. She gave us the devastating news that the most likely cause was T13 or 18. I had completely missed the point of the 20 week scan and had no idea what she was talking about although it soon became all too clear with the help of good old Google. We saw a fetal medical specialist a few days later who confirmed the sonographers findings and also explained that there was a part of the brain that she couldn't see. She agreed that 13 or 18 were the most likely causes. We are now waiting for an amniocentesis this week after much soul searching about the risks. I'm not looking for people to tell me it's all going to be fine; so many severe defects do not make for a healthy, typically developing baby. I suppose my question really is, does anyone have any experience of these types of markers being caused by something else? The recently born baby of a close family member is about to begin genetic investigations for a possible chromosome disorder (unknown ) which may have come from either side if their family (I. E. not necessarily my family ) so the problems with our baby could be related. So many unknowns at the moment

The midwives are brilliant but ultimately they are not doctors. Think we are going to ask for the doctor to talk us through the report next week. We shouldn't be coming home and googling to find out what it all means.

Definitely ask to speak to the doctor then. Although we've spent a lot of time googling even after speaking to the consultant! If can help with translating anything really happy to try. I know scan reports are often unintelligible

Good old Dr Google eh?
The cardiology appointment has come through for Tues so that's not too long to wait! I'm expecting that to be much more medical jargon so need to make sure we are clear about what that all means before we leave.
We have ordered the smallest size sleepsuit and hat we can find in case the little monkey puts in an appearance soon. Next on my list is a just in case bag for the hospital, any suggestions as to what I need to put in it? Pretty clueless as this is our first and I'm not sure I can cope with all the cheerful hospital bag threads on here!

Tuesday is good. Highly recommend the British heart foundation leaflets for cardiac explanations understandable but not patronising. Have they said what they're concerned about with the heart. Dd has cardiac asymmetry, bilateral superior vena cavae and possible coarctation of the aorta plus her heart is on the right. Her echoes have improved each time which anecdotally seems to be common in t18.
Lovely that you have bought clothes we also bought clothes when she was tiny and now we're on her third set. i can pm you my hospital bag list if you would like. You are much more organised than us. We only packed ours a couple of weeks ago.

I am really hoping for the best for you. Please let me know if there's anything at all I can do that might be helpful. Hope you have a peaceful weekend

If you could send the list that would be great. I've got a theory that if we are ready for arrival at any point it won't happen for ages. Although I had a theory that I wouldn't buy anything until after the 20 week scan and it would all be alright and that didn't go to plan!
One consultant said she couldn't see the heart well enough to comment although I'm not too sure why. The other consultant and the original sonographer thought that the left ventricle was too small and couldn't see cross over from right to left. I'll have a look at the British heart foundation, thanks for the tip. Movement has been a bit quiet for the last couple of days, I'm half expecting there to be no heartbeat on Tuesday. A bit more waiting!
How goes it over there in your world? Hope that all is peaceful

I will definitely pm the list when I get home. Currently sitting in the hospital waiting to see the doctor, dd looks fine but I have a high heart rate hopefully it's nothing.

I also didn't buy anything until after 20 week scan and still all we have are some clothes and a rainbow blanket. We're also planning to bury her in the garden so we've done the garden up for that.

Dd's left ventricle is small , originally was 2.8cm and right was 6.2cm and they should be the same, cardiologist was considering hypo plastic left heart but recent echo left was 8cm and right was 10cm so evened up, they don't think it is a problem now. Echo was really useful and cardiologist very supportive.

I hope the movement is okay. We went to Berlin about 25 weeks just after diagnosis and dd didn't move at all for 2 days. We heard her with the sonicaid but didn't think she'd get much further. If you are worried can you go into the hospital and they can listen in for you. There is usually a day unit for that purpose. Of course it's really normal for a baby before 28 weeks to have very quiet days especially if they're little so it could be nothing. Do go in if youre worried though they are usually really helpful and might be easier than waiting until Tuesday.

Oh heck, it's never ending isn't it? I hope that you get seen quickly and it turns out to be nothing. My current theory is that I won't feel much movement as the little monkey is so small so I've stopped panicking for now. I'll see what tomorrow brings and maybe phone the hospital. I don't think I'm ready to be told the baby has gone yet.
Burying your lovely daughter in the garden is a fabulous idea, have you got it how you want it now?

I am sorry that things are so stressful for you

Things I found most useful for the hospital were:
-paper pants, or very old ones that can be chucked (lots)
-sanitary towels (ditto)

• 2 or 3 summer nightshirts (hospitals tend to be hot)
• light dressing gown and slippers
• travel towel

-muslei bars -mp3 player -money (to buy credit on hospital tv system) -clean clothes for coming home in -phone charger

• baby things

HTH