Hello,

I guess I'm looking for anyone who has any info or experience with chromosome abnormalities or has been through a similar experience.

Basically I've had at least 3 MC's all around 6 weeks in the past 18 months since we started TTC after our wedding.
In October time we were referred to a specialist to discuss my miscarriages and some blood was taken to check for chromosome abnormalities from myself and my DH. At the same appointment we also found out I was pregnant! Which was a shock as we had stopped TTC.

Anyway, the specialist started me on weekly HCG Pregnyl Injections until 11 weeks. Amazingly we got past the dreaded 6 week mark and I am still pregnant now at nearly 14 weeks. Yey!

I've had my NT scan and bloods done last week, the NT measurement was good but we are still waiting on our combined results risk ratio...I'm hoping no news is good news on this occasion.

Anyway, during all this we received a letter from my specialist saying she had the results for the chromosome testing, whilst I was fine, DH had a 'slight' chromosome abnormality, which may be the cause of our losses.

Now next Tuesday we have to go see a genetic councillor to discuss the results and any implications on future fertility and this current pregnancy.

What I guess I'm wanting to know from anyone with any experience with chromosome abnormalities is can I still have a normal child if my husband has an abnormality? I don't know anymore than them saying 'slight abnormality'...is that even possible.

I know I'll probably find out all the answers to my questions next tuesday but it just scares me because I find this all out whilst being pregnant and it's the only pregnancy that has got this far...I feel like now all the excitment has been ripped away and the massive worry has kicked in again

Hello Pickle,

I thought I must reply to your question in the hope that it might put your mind at rest....

With my first pregnancy my blood results came back in 1 in 76 chance of DS - so went ahead with the amino to investigate it further.

I was over the moon when my results came back as negative for DS - however they found a Chromosome Abnormality with Chromosome 3 - in that is had a bobble of it.

I made the mistake of googling this - and it came back with so many different possibilities from missing a digit to dwarfism - which made me worry even more!

Myself and My husband then needed to go from Chromosome Testing to see if we also had this chromosome defect and that we had genetically passed it on. Well the results came back that it was ME with the Chromosome defect - the bobble - as we refer to it!

Well - I (probably like your husband) am completely normal (well I think I am ) I don't have any underlying issues - not to blow my own trumpet - but have been to uni and done very well for myself) - so this put my mind a little at rest for the rest of my pregnancy..

When my son was born - he was perfect - even though he also has the Bobble!!

I am now pregnant with my 2nd but did not need the amino this time as my results were 1 in 4600 - so I will never know if this little one has the bobble or not ..

I suppose what I am trying to say if you had never had the testing you would never of known of the chromosome abnormality - and I truly believe there are thousands of people out there with them - that it has no impact of their lives whatsoever - just makes them a little more special!

Hope this helps!

Thanks! that's stopped my mind racing! I hate the not knowing. I just hope it is a tiny thing and doesn't affect LO.

Part of me wishes I hadn't had the chromosome tests until after this pregnancy. X

From what I understand the chromosomal testing can cone up with different issues. It really depends on what gene is affected. Sometimes all pregnancies are affected in a bad way but most of the time there seems to be a percentage. So for example half your husband's sperm might be affected and end in miscarriage, the other not. Or in the case of one of my bnb friends, none of her boy babies could make it as they were missing a part of their genetic coding.

By virtue of getting past first tri it sounds like you have a good un brewing there, though!

I hope all goes well with your meeting and that your geneticist can give you all the info you need to help you figure out a plan for the future of your family. Xxx

Thanks Petitpas!

Today I got my combined NT results, which were 1:27000 so that gives me hope, I will know by tomorrow what effect dh chromosome abnormality has on this and future pregnancies. Xx

Well I thought I would update my thread.

We have spoken to the genetic councillor and now have a better idea of the implications involved in our current pregnancy and future pregnancies.

Basically husband has a pericentric chromosome inversion on chromosome 22, which basically means three things can happen.

1) We have a healthy child with no issues or chromosome abnormalities.

2) We have a child who has the same 'balanced' chromosome abnormality as my husband and is perfectly fine, but might have the same fertility issues.

3) We have a child with a 'unbalanced' chromosome abnormality that could have learning and/or physical abnormalities.

No 3. could be the cause of my previous miscarriages. They cannot give me an idea of how severe the abnormalities could be but they gave me the worst case scenarios - miscarriage, stillbirth, severe mental issues, severe life threatening physical issues.

Then I was asked if I wanted a CVS..I said no.

I'm having a scan soon 16/17 weeks to have a detailed look at the baby to see if they can spot any abnormalities.

They tried to offer me the amniocentesis after this, which I said we would think about.
To be honest our view is that had we not know about this chromosome issue, we would have progressed this pregnancy as normal, and dealt with whatever outcome occurred.

So with that in mind, we are going to continue with scans but have no invasive testing done, we will love this child regardless of what out come we get.

Hi Pickleton,

Glad you were able to get more information from your genetic counsellor regarding the abnormality.

I think the main thing is to enjoy your pregnancy and not worry about it - and take comfort that your husband is normal so there is a really high chance your baby will be normal as well. Sometimes all this up-to-date testing and analysing - causes more worry than is really necessary .. )

Wishing you a Happy & Healthy Pregnancy for your remaining term...

hey

I have a balanced translocation of 22. Half is attached to number 2. I have had 6 mcs and my genetics counsellor believe it was the cause of all my mcs.
Last year i fell pregnant. i had the same odds as you have, in december i gave birth to a very beautiful perfect little girl. She was tested for my problem and she is perfect. she has a complete normal set of chromosomes. it can happen. miracles do happen. my princess is proof.

So glad you posted, it can feel quite isolated when you find out about something like this, were hoping for the best.

So happy to hear you have a beautiful perfect little girl x

yeah i struggled for a very long time to come to terms with it, i was 21 when i found out and im 24 now. My mcs were all with a previous partner, my little girl is with my now fiancee. It was fate. I like you refused an amnio. i said what will be will, even tho i was scared everyday that shed not have a normal life. I had regualr scans the whoe way through my pregnancy up untill 28 weeks then i was released to a normal pregnancy lifestyle lol.