Genetic testing?

[Bonnielass]

Hi everyone, this is only my second post here, and I'm hoping someone can help me as the truth is, i'm a bit lost...also please excuse my 'ignorance' in places - I'm really new to this! Story is as follows...

My DH and I have decided to start the baby hunt this month, but there's a niggling issue - two year's ago, my husband's sister gave birth to a little girl with Downs Syndrome (nothing showed up on triple screening, and she was given a very low probability, so didn't think even about further testing). Unfortunately, the baby also had serious heart defects and died three months later. DH's sister then got pregnant again last year, and despite being told that the likelihood of history repeating itself was very low, amnio confirmed that this baby was also affected, and she aborted at 5 months. Since then, she has been having tests, including genetic tests, which have shown 70% abnormalities. However, it is difficult to get more information from her, and we don't want to pry too much as it's obviously difficult for her and given the recent traumas, we aren't too keen on advertising the fact that we are TTC. At the same time, I have been reading about balanced translocation, and we are obviously worried about DH and our future offspring...as far as I can see, there is no other family history of anything.

Has anyone been through genetic testing or experienced anything similar? Where do we start?
Thanks for any help!

 

[JASMAK]

I have not been through genetic testing, but I do think that this is something that you could totally bring up with your DR, since in your case, it is in the immediate family. I know that would be very worrisome, with your TTC adventure. Is your sister-in-law in the high risk age??? Are you??? Best wishes with whatever you decide.

 

[massacubano]

My sister has a son with downs and autism. He had a heart operation as a baby and is fine now. His lips were blue for the first few months of life. Now, how he had both I just will never know.

So with that said I can relate on the whole genetic factor of these issues. I do feel it may have came into play on my son having autism. She is my half sister so it had to of come down the male line on our fathers side.

I wish you luck with whatever you choose. I know they do have genetic counseling (sp) in the US. Perhaps you may want to talk to them before TTC if it concerns you. I am sure they will know the odds for you better than anyone.

 

[Bonnielass]

Thank you both so much for your replies, it's nice not to feel completely alone and clueless! SIL was 36 first time round and 38 the second time, so yes, she was at a high-risk age. I'm 28, so not too many worries in that aspect.
It's a very daunting prospect that this could also affect us, and I'm trying very hard not to think selfishly about it, but I do wish sometimes that SIL would elaborate more on what she knows/doesn't know so that we would have more of an idea where we stand. It's obviously very difficult for her though.
Next week I will get on to tracking down genetic counselling departments near us for more help. Thank you both again!

 

[Deb&Matilda]

Hi I dont know much about genetic testing but just wanted to say good luck and yes if you are at all worried maybe it would be best to go and see them just so you are aware where you stand xx

 

[massacubano]

Thank you both so much for your replies, it's nice not to feel completely alone and clueless! SIL was 36 first time round and 38 the second time, so yes, she was at a high-risk age. I'm 28, so not too many worries in that aspect.
It's a very daunting prospect that this could also affect us, and I'm trying very hard not to think selfishly about it, but I do wish sometimes that SIL would elaborate more on what she knows/doesn't know so that we would have more of an idea where we stand. It's obviously very difficult for her though.
Next week I will get on to tracking down genetic counselling departments near us for more help. Thank you both again!

Glad you are looking into the counseling! That is the route I would take on it too!

here is a chart of risks per age I found online.

https://www.mothers35plus.co.uk/down.htm

 

[Bonnielass]

Thank you so much massacubano! That is exactly the kind of information I was looking for but was somehow unable to find!
My DH managed to bring the subject up with SIL on the phone yesterday, and it turns out she is starting IVF next week in the hope that the docs can select a 'good' egg. She has been warned that the chances are not high and she will have to go through amnio anyway, but she is determined to give it a go.
She also said that after the first baby with Downs was born, they did blood tests to see whether it was hereditary, and the results can back negative. When she fell pregnant again and amnio confirmed that this baby also had Downs, the doctors were apparently astounded. She said she and her husband have had multiple tests since then, which have concluded that her OH is fine and that she has 70% 'abnormalities', not all of which are linked to Downs...we knew this before, but yesterday she told us that she had asked what the implications were for her siblings, and the doctors were relatively dismissive, saying that the chances of it being hereditary were extremely low, but also failing to explain completely.
We have decided to look into it ourselves and have all tests necessary done asap. Even if the chance is very small, we would rather know what we possibly face beforehand.
Thank you all sooo much once again!

 

[massacubano]

Thank you so much massacubano! That is exactly the kind of information I was looking for but was somehow unable to find!
My DH managed to bring the subject up with SIL on the phone yesterday, and it turns out she is starting IVF next week in the hope that the docs can select a 'good' egg. She has been warned that the chances are not high and she will have to go through amnio anyway, but she is determined to give it a go.
She also said that after the first baby with Downs was born, they did blood tests to see whether it was hereditary, and the results can back negative. When she fell pregnant again and amnio confirmed that this baby also had Downs, the doctors were apparently astounded. She said she and her husband have had multiple tests since then, which have concluded that her OH is fine and that she has 70% 'abnormalities', not all of which are linked to Downs...we knew this before, but yesterday she told us that she had asked what the implications were for her siblings, and the doctors were relatively dismissive, saying that the chances of it being hereditary were extremely low, but also failing to explain completely.
We have decided to look into it ourselves and have all tests necessary done asap. Even if the chance is very small, we would rather know what we possibly face beforehand.
Thank you all sooo much once again!

I am glad sister is talking more about it with you and your husband.

no problem, happy to help!

 

[Emmea12uk]

I have a son who was born with spina bifida and I am due to under go genetic testing soon. I don't understand how it all works and especially know nothing about Downs, other than the older you are, the more at risk you are - but I know your doctor can refer you to genetics at your local hospital if you wish.

Good luck to you and your sister.

 

[Bonnielass]

Hello all, well I thought I would give an update on the situation in case anyone is going through something similar...DH is still waiting for an appointment to have tests done, but in the meantime, SILs docs have continued to reassure her that the chances of her 'cell abnormalities' also affecting her siblings are low.
However, just to add another twist, we found out last week that SIL is secretly pregnant again, after being told she was pre-menopausal and would not conceive again without help...she hasn't told anyone else yet, as her nuchal scan last week showed that this baby could also have Downs. This is scary - three in a row??? But doctors still telling her it's unlikely to run in the family??
It's tricky - we're hoping for SIL, but at the same time worrying for ourselves.
I'll keep this updated anyway, just in case it helps anyone else!

 

[claralouise]

i wish your SIL good luck. i dont know much on downs just like what others said the age risk thing.
Good luck i hope you get the results you are after freom the tests you are going to have

 

[Emmea12uk]

She is in my thoughts, sendng her positive vibes. But congratulations on the pregnancy to her!

 

[Bonnielass]

Update: SIL finally got the chromosome tests back and DEEP BREATH...everything is okay this time! They did tests on the chromosome paris 21, 18 and 13 and the results are perfect. They also told her it's a boy! She is still cautious though, and has been told she will be treated as a high-risk case anyway throughout the pregnancy.
Now we're waiting on DH's results coming back, but this news has certainly been uplifting for all of us!

 

[Emmea12uk]

congratulations to them both. That is excellant news.

 

[Sweetie]

Congrats on the good family news

 

[Angel269]

Hi

Me and my hubby are ttc # 1. He was born with a unilateral cleft lip-his mum and brother were born with cleft lip and palate and so were his mum's twin cousins. Around a year and a half ago we approached our GP and mentioned this (at that point were were not ttc). We have spoken to a geneticist and hubby has had some blood tests done and things are complicated. In March he had some more blood tests done-we are still waiting for results but have continued ttc regardless of this due to the information that we have received so far. Hopefully we should hear in the New Year (if not we should do some chasing).

 

[Emmea12uk]

Hi

Me and my hubby are ttc # 1. He was born with a unilateral cleft lip-his mum and brother were born with cleft lip and palate and so were his mum's twin cousins. Around a year and a half ago we approached our GP and mentioned this (at that point were were not ttc). We have spoken to a geneticist and hubby has had some blood tests done and things are complicated. In March he had some more blood tests done-we are still waiting for results but have continued ttc regardless of this due to the information that we have received so far. Hopefully we should hear in the New Year (if not we should do some chasing).

That's an awful long time to wait! We waited three weeks I think