Chromosome 5 abnormality - how to proceed?

[Springymajig]

I have no idea where to put this, as it is a query that straddles several different topics!

Essentially, we are undergoing IVF/ICSI treatment at the moment. I am currently stimming and, if everything is textbook (!) it will be egg collection a week today.

We have just been told that DH has a 'chromosome abnormality' on chromosome 5. Apparently the pairs don't separate properly so it either produces a chromosome with a missing part, or an extra part. The letter from the geneticist says 'low risk', but our IVF consultant has no idea what the parameters for 'low' are, nor how this issue may present. We are not going to be able to see a geneticist for 6 weeks due to referral time, so obviously I was hoping to be pregnant by then!

How do I decide how to proceed? On one hand I feel that perhaps we should freeze any embryos and wait until we've seen the geneticist and are armed with more facts. On the other hand, I feel that that would damage the chances of the embryo implanting at all, compared to fresh, and what are the risks in reality? I could have CVS / amnio if I were to actually get pregnant and then take a decision from there...?

Does anybody have any experience / advice about this? Thanks.

A very difficult decision for you. I don't have any experience of this situation but until someone else replies my gut feeling is that you need more information on the risk and its likelihood of occurring before you proceed.

You can have CVC/amino but both procedures carry a small risk of miscarriage. Also you may want to consider what you would want to do if the testing revealed that the baby had this chromosomal abnormality.

Thanks for your reply... It's useful just to get it out there and talk it through! I know that the tests carry the risk of miscarriage, but what I'm considering is that the reduction of success rates we would be creating with frozen embryos may be greater than the risk of miscarriage. Obviously miscarriage is a more traumatic experience, but if I'm looking at the odds of an overall success it isn't totally clear cut.

How we would respond to the results of the test would vary as to what the issue actually was. From my limited knowledge, it seems that some issues may have much greater effect on quality of life for the child than others. We do already have a SN child (different biological father so not the same genetic issue) so that is also a factor I suppose.

Have you been given any information about the issues a baby might face if they had (what's sounds like) a translocated chromosome? As far as I know depending on the chromosomes that are affected by translocation or chromosome deletions can vary from mild learning difficulties to leathal abnormalities.

It sounds like you would be a perfect case for having genetic screening on embryos if that's a possibility for you.

We haven't been told anything at all. We've just been told 'low risk' and the consultant said that there was no mention of any screening opportunity on the letter. The clinic we are receiving treatment with don't have their own genetics lab. I have an appointment tomorrow for a scan to check the progress of the stimming - I think I will have to push for more, but I don't know the questions to ask and they don't have any geneticists on site!

That's treally tricky. What does low risk mean? Low risk of the translocation effecting a baby or low risk of the translocation causing issues?

Personally I'd want a specific appointment to go through it with you. The last things you want (worst case scenario) is to go through ivf and then find that a chromosomal anomaly serverly affects the baby leading to a life limiting or incompatible with life diagnosis if it could be avoided. (I know you run e risk of it happening anyway whenever you get pregnant but if you have a chance to screen for it then it will make you happier)

This is exactly the problem - we have no idea. I don't know if the risk is high enough to be worth freezing embryos & waiting or not. I think you're right though - it doesn't matter what angle anybody looks at this, there just isn't enough information. I am going to have to see what I can get out of the clinic tomorrow, even if it's a phone number for the genetics lab. This really is against a time limit and we don't know nearly enough! It's one of those things where it's almost better not to know because potentially the likelihood is that everything would be okay. But knowing that there is a known chance, above the standard risks of pregnancy, that it won't be does change everything.

Definitely get on to the clinic and say you want more info and they need to find someone who can provide it fir you

There are groups on Facebook for families who have or have had babies with various trisomies who would be willing to share any information they might have. You could also try SOFT or ARC for more information. We recently had and sadly lost a baby with an extra chromosome 13 and found these groups invaluable in finding information.

I agree with what everyone has said - I would need to know a LOT more about the implications of a translocation (if indeed that's what it is) from a genetic counsellor.

ghr.nlm.nih.gov/chromosome/5

That's all really great, thanks. I will look at those things. I will be at the clinic tomorrow and will see what I can get out of them and will come running back for more advice! Thanks

I'm probably too late as you've been to your clinch today. But my clinic actually have a very slightly better success rate with frozen embryos, so it's worth considering freezing them. Xx

Thanks everyone for your replies - really. It was so nice to be able to talk to you yesterday when I felt like I may explode.

I have actually got a copy of the report today and I don't think that things are nearly as bleak as the consultant led us to believe. Indeed, I think the way that he explained it to us was actually slightly incorrect.

The report says that there is a balanced paracentric inversion on one of the chromosome 5s which is usually innocuous but has a low chance of causing infertility (no kidding)... It basically reads to me as being a total non-issue, which is just ridiculous given how worried I've been and how our entire weekend was spent with me in hormonal, anxious tears!

We will still keep our appointment with the geneticist whenever it comes through to make sure that I've read it correctly, but if it is as I think then I don't think we'll even do CVS or amnio. I can't believe what a turnaround it's been in the last 24 hours. I'm almost irritated with how the consultant handled the whole thing with a botched explanation and calling us in urgently to discuss blood results, etc... I'm going to focus on the relief and positivity instead of that, though!

I see, sounds like pretty innocuous. Great news though. I'd be annoyed at the consultant too but that really is good news

There is a growing body of evidence to say that Frozen embryos do better than fresh ones anyway, so don't let that sway your decision if you are tempted to delay it.

Could you do Pre-implantation Genetic Screening? This is where they culture the embryos to day 5 blastocysts and then remove 1 cell, and look at the chromosones. Only the embryos which are chromosonally normal are considered for transfer.

The downside is that it is very expensive - we were quoted £3k per 10 embryos, although if you have a potentially inheritable condition, you can get it for free on the NHS

your husband will have a 50% chance of passing on the abnormality if the translocation is balanced then things should be ok i think its when its unbalanced problems can arise. contact unique its the charity/support group for people with rare chromosome disorders and has the biggest data base of people with rare chromosome disorders in the world they should be able to give you more detailed information my son has a deletion on chromosome sixteen they have really helped us.

You could do NIFTY or Harmony testing from I think 10 weeks pregnant which would not pose any risk to the baby.
I had a Nifty test when my anomaly test came back as high risk (1 in 29) chance of abnormality. It really put my mind at rest and I found out the sex at 12 weeks which was a little sweetener after two weeks of hell!
Hope it all turns out well for you.