Im 8wks pregnant and have just been told I have a chromosome abnormality - Worried Sick

[iwishuponastar]

After 3 m/c I am now 8wks pregnant, had a scan at just over 7wks and saw the heartbeat. I was tested last year for recurrent m/c and when I went back to consultant they said everything was normal, I got called to the hospital Thursday for them to tell me my Chromosomal test is abnormal and it could effect my baby as my chromosomes may be passed on. I have been told I can be tested between 10- 14wks which is the Amniocentesis test or CVS analyses. I just can't beleive this has happened. What if they tell me the baby has chromsomal abnormalities but they don't know what effects it will have on the baby. If I have these tests there is also a chance I could miscarry. I am also thinking well I have the chromsomal abnormalities and I am a very healthy normal person.

Has anyone else been through this? If they did how good are the tests with finding out if my baby did have an abnormality what it would be.

I see a genetic specialist next week but I am so worried. In the back of my mind I keep telling myself the other pregnancies that ended in m/c must of been because the baby had an abnormality and this pregnancy must be normal because it hasn't ended in miscarriage.

yes. I have the same. I have a balanced chromosome translocation - I don't have any physical / developmental or health issues cos I haven't actually lost or gained genetic material. Its just rearranged - bits swapped over and in the wrong place.

Does this sound like what you've been told?

I have a daughter with a lot of problems as a result of having the UNbalanced form of the translocation (1 wonky chromosome with bits missing and extra but without the paired wonky chromosome - ie my other normal chromosome of that no instead)

She is severly disabled. I found out about my BT shortly after her birth. She is a delightful child.

I have a ds with normal chromosomes. I have had 4 mc.

Unique are a very good organisation getting in contact with

Can very much empathise with the situation you are in now. The prospect of cvs / amnio and the subsequent 'choices' are absolutely terrifying. Sorry you are facing it. I wouldn't wish it on my worst enemy

I'd be happy to chat to you more if that would help? I'm actually in the same situation as you right now. But would rather talk via cat / email than on public messageboard iykwim

oh yr feelings about the mcs and this pg are not way off the mark. The most likely thing IS mc if the baby had chromosomal abnormality. Though this does largely depend on what chromosomes are involved, the breakpoints, the sizes of the duplications and deletions etc. The Geneticist you see next week should give you a better idea of this

For me its about 1 in 8 to 1 in 10 of having a baby with chromo abnormality. And even then chances of adverse outcomes at / after birth are v high. But like with all odds, tis still a bit of a guess cos its working on the assumption that you have equal no of affected / unaffected eggs. Tis like flipping a coin really - no one can say its always going to be heads / tails. It may be that you flip heads 10 times in a row

But please don't give up hope just yet - there's a good chance yr pg is going to be fine. The tests will give you an answer if that is what you want. These early months are just a bloody horrid waiting game

What is the chromosome rearrangement you have. It does sound as if it might be a balanced translocation. This would mean you have the correct number of chromosomes but they are joined together when they shouldn't be. A common rearrangement is when chromosome 14 joins to chromosome 21.

This increases your risk of having a baby with three chromosome 14's (which would almost certainly miscarry) or three chromosome 21's in which case the baby would have Down Syndrome. It's only an increased risk though, you could also have a baby with no problems at all.

You don't have to have a CVS or amnio. That's up to you. You can gain further information from scans (such as looking for the nasal bone) and you may decide you wouldn't terminate anyway in which case an invasive test probably isn't worth having.

Do you have access to specialist counselling? It might be very helpful as it's a lot to take on board, and complicated. You said: "In the back of my mind I keep telling myself the other pregnancies that ended in m/c must of been because the baby had an abnormality and this pregnancy must be normal because it hasn't ended in miscarriage." If you have a balanced translocation this is entirely possible, perhaps even likely - so hang on in there with that thought.

ooh saintly my dd has 2 and a half chromo 14s and deletion on 5 (cri du chat syndrome)

we were told our other ubt would most likely be incompatible with life what with it being a big deletion. Although doesn't look as though there are that many with 14q duplication my dd has either. Think unique had heard of between 10 - 20 cases worldwide. Our geneticist had heard on none.

sorry for hijack wishuponastar. Wishing you all the best x

It's so complex isn't it? We're due to head to genetics with my ds1 soon - I will need to revise before we go!

Hi saintlydamemrsturnip Im not sure if this is correct but I think some of my chromsome 8 relocated to chromosome 17. It was so much to take in when the consultant was telling me. Hopefully the genetic specialist can explain more to me on Friday.

Thankyou both saintlydamemrsturnip & herjazz for your msgs.

herjazz I am going to see the specialist Friday and it would be good to have a chat with you.

found fred again!

iwishuponastar - how are you? if you want to email me its [email protected]