Here are some suggested organisations that offer expert advice on SN.
What does this mean?anyone heard about it?(13 Posts)
can someone please please explain to me simply what my problem is, i have had 54 cells grown for my cvs and 5 of them had an extra number 2 chromosome?(trisomy 2) what does this mean for my baby???
sorry, didnt explain fully....had a cvs cos of finding a nuchal fold, it came back as a mosaicism...great! that was the result as explained by a geneticist, but he was vague as to how it may manifest itself, he mentioned facial disfigurement! internal organ problems! learning difficulties or........ a normal baby!!!!!! HELP, im so confused! had an amnio monday but he said the result wont really help in a diagnosis cos if its all clear, then that will yes rule out placental probs but wont rule out baby probs as the cells they recovered from the amnio may not of got the bit with the extra chromosomes in it! im so depressed. Have a heart scan for baby at 20 wks, im 16 wks now. got to wait 2 long weeks now, am so so scared, ps im 41.
I know nothing about these things, but you need to talk to a doctor or very knowledgeable midwife until you understand what this is all about.
Did some of it just wash over you when you were talking to the geneticist or was he talking in techie language?
Someone needs to tell you what this means for you and your baby. Do you have a consultant? Can you ring the secretary and make an appointment?
You need to get someone to go through it with you in detail. It is complicated and needs to be done face to face so you can ask all your questions. . A mosaic means that some cells have the extra chromosome and some don't. With CVS you don't know whether the extra cells are in the baby (in which case the baby might be affected) or in the placenta (in which case the baby will be 'normal').
I'm not quite sure I understand the amnio bit as he's said it to you. I would have thought that an all clear in an amnio would rule out severe baby problems (because if the baby does have some affected cells that haven't been picked up it's quite probably not that many- mosaicism give 'worse' results with increasing numbers of dodgy cells), and would suggest that it's possible the cells are in the placenta.
I suspect (having had a friend go through this) you're not going to get much more information until birth on the chromosomal problems- if there are any. Scans will possibly be your best bet for getting further information.
Have you had a referral to a genetic counsellor. If someone in obstetrics can't go through this with you properly I would ask for a meeting with a genetic counsellor.
I have found this:
"In most cases where trisomy is found on CVS but not on amniocentesis, the outcome is normal."
The information I've just read on mosaic trisomy 2 is complicated. Even by the standards of this sort of situation (mosaicism is always complicated). Do make sure you ask for proper information.
thank you all. We did speak to a geneticist and basically he couldnt answer the inevitable question " will my baby be normal?" he said he wont know until shes born, the amnio will rule out the placenta, but if its trisomy again , its obviously in the baby but that could still mean a normal baby, or it could not! and theres no way of discovering this. I guess we just have to pray and wait and see, a good name for her at this stage would be Hope i reckon! I cant terminate a life on the chance she may have problems, i could only do that on hard facts. He said also that even if results are normal, it doesnt mean they got enough or the right cross section of cells to find the trisomy! So im in a no win situation really.
With an attitude like that you will win- becuase you are going to make a fantastic mummy and your child will be extremely lucky. And yes, Hope would be a wonderful name for her!
amen to that peachy! mommyspop I admire you
for what it is worth I had no diagnostic tests for faith reasons but all other signs pointed towards a 'perfect' baby, which I had for 12 hours, now I know he is brain damaged. Look at my profile, anyone around who could have terminated that?
What am i trying to say, I should be in bed.
Our little ones are precious and worth having regardless. I would not miss Nathan for the world. If someone could fix him, great, but I would never swap him for a healthy baby.
Just back down from feeding ds and not happy about my previous post. I somehow feel that it trivialises the enormity of having a baby with trisomy. I am sorry. maybe best disregard all but the top line of the post.
thanks, i am starting to worry that he will grow up thinking his name is 'gorgeous'
Unique are a really good organisation re rare chromosome disorders (my dd has partial trisomy 14 and partial 5p deletion) Their website is rarechromo.org
With any of these disorders it would be v difficult to predict to what degree a baby would be affected in utero. Even beyond that. The same chromo arrangement can throw up different things from person to person. Bear in mind that some genes are switched off / unused anyway (eg only one copy of particular gene on the pair of chromosomes is active) Nobody can tell if they are the ones involved in chromo disorder.
Mosst children with chromo disorder will have problems but the spectrum is huge. I read the Unique newsletter and am amazed at the stories. I went to their conference a couple of years ago and met several people with chromo disorder who had been to university and had no obvious features of anything unusual. Others had significant facial / physical / learning issues. If you know exact breakpoints / size of duplication that can give genetics counsellors some pointers / indication but its still difficult for above reasons to give any sort of definite, reliable prognosis. More likely indicate possible areas problems can occur (eg some disorders have specific, reaccurrent issues)
I really struggled with this uncertainty at first but soon began to see that 'wait and see' is pretty much what goes for any child. Chromosome disorder or not
Wishing you all the best for your pregnancy and beyond x
<<Madmouse he's lovely- my ds4 is 2 months younger than yours. Envy your job as well- thought about that but need to speak to Uni careers (graduated last year) at some point, teaching possible>>
Echo madmouse about the unreliability of tests- I didnt knw ds1 was asd until he was 6 (thogh we knew he was different from about 3 or 4, thats when we got a dx); we didnt know ds3 was sn (no dx yet) until he was 3.
And I wouldnt swap them for the world.
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