so worried about m/c with translocation

[DiamanteMaddy]

Hi,

I'm 22 and spent 1.5yrs TTC with my ex parter with no luck (a blessing in disguise after he showed his true colours), however I have been with my new partner just over 2 months and am now 8 weeks pregnant. I have always known that I have a translocated chromasome disorder which makes it harder for me to conceive and more likely to miscarry but I am absolutley petrified that I am going to lose this baby.

Had an early scan to check for eptopic 2 weeks ago and it showed I was 6 weeks pregnant and baby had a clearly visible heart beat however dates dont match up which worries me! My LMP would have been around 15th April which would make me nearly 12 weeks pregnant! Is this a bad sign? Im so confused and worried

[manitz]

hi, i dont know about the dates and how the scan matches up, I guess you have to see what happens there. However I wanted to say that my husband has a balanced translocation and we were told that there may be an increased chance of a miscarriage because the translocation may become unbalanced. I was told that in that case it would be unlikely there would be any baby and I would experience something like a late period rather than a late miscarriage. I was given to understand there would not be a heartbeat in those cases (I am not aware of any miscarriages so far)

I have 3 healthy kids and am 24 weeks pg with a fourth. I have had two terminations but for issues that were unrelated to the translocation and likely more to be age related.

Hope that is of some use to you. xx

[DiamanteMaddy]

Hi Manitz, thank you for your reply and for giving me a bit more hope :)

Congratulations on your pg

xx

[manitz]

thanks and congratulations on yours. hope the date concerns get cleared up on your next visit. xx

[glimmer]

Hi Diamante,
Congratulations. Have you asked your GP about a meeting with a specialist?
It might be helpful to talk to an expert. Other than that I second that a heartbeat is always a good sign!

[cherrybug]

Hi Diamante,

I was pregnant last year with a baby girl who had an unbalanced translocation. We ended the pregnancy at 20 weeks (it came to light after an amnio) as we were told that the problems she would have if she even survived to full term were numerous and extremely severe. It was, as you can imagine heartbreaking. In our case it was a very rare random translocation and there were over 600 extra genes duplicated which we were told would cause multiple problems.

In my case my dates were also out too and they dated me 8 days behind what I thought I was. I was pretty sure of my dates as we were using ovulation sticks and so for me being put back was a red flag. I did feel right from the time of the pregnancy test that something wasnt right, a feeling I couldn't shake.

It's extremely common for dates to be out though without any problems so it doesnt mean that something is wrong. And I really dont want to worry you unnecessarily but thought it may be useful for you to hear my experience so you can try and get access to the right support you need.

If you haven't already, I would ask to see a geneticist and I would have nuchal screening with a view to considering CVS. If the baby does have an unbalanced translocation then it is probably best you know this as soon as possible so you can find out the implications. And of course the baby could be completely fine which means you can then enjoy your pregnancy.

It's actually quite common for people to carry a balanced translocation and in most cases it doesnt cause problems. Try not to worry too much (easier said than done I know) and get some specialist advice.

There is a charity called Unique that provide info on rare chromosomal problems - they have a book called the Little Yellow Book which gives in depth comprehensive info on chromosomal disorders. I found it very useful.

Little Yellow Book

Very best of luck. Cherry x

[AmaraDresden]

My DP has a balanced translocation, it runs in his family, because he had a sister (live birth as they put it) who was born with it unbalanced and disabled we were offered tests. He has another sister who has the same balanced translocation and has had a few terminations. We were told BT is fairly common, often resulting in very early miscarriages that the woman doesn't even realise happened. Live births are more unusual. If you are concerned then do push for a genetic consultation, going by what we were told during ours then you probably have the average chance of miscarriage and your worries are probably not going to happen.

If you see a genetic consultant, then you both need to decide if an invasive test is really beneficial to you. We refused an amnio with DS1 but had one with DS2, and it was the best decision we made both times. DS2 also has a balanced translocation.

Good luck and congratulations!

[ronnie14]

I know this is an old thread, but I'm sure there will always be people searching for info on this. I carry a translocation of 8 and 16, and I would really recommend having genetic counselling, it is so helpful and gives you the support you need. I am registered with the Manchester Genetic Service through the hospital, and they have been just wonderful through all the years. They arranged for me to have a special detailed scan at 20 weeks with one pregnancy where everything possible was checked and it was very reassuring. Before my second child was born, I had had 3 unsuccessful pregnancies due to an unbalanced translocation, and the waiting for the early (7 weeks) scans was hell. On two occasions the Usound showed only an empty sac; on the third it showed a tiny foetus with a beating heart, but 2 weeks later there was nothing. So my heart goes out to anyone who carries a chromosome translocation, but stay positive, you do have a pretty good chance of ending up with a healthy child.
Genetic counselling is also good as they will keep in touch with the whole family over the years, and will offer testing/counselling to your children too when the time is appropriate. Good luck everyone!