Prenatal carrier testing for genetic disorders

[Loobs]

Hi everyone

My OH has a strong family history of cystic fibrosis and he has mentioned that he would like to be tested before we TTC to see if he is a carrier.

Is anyone else in, or has been in a similar situation? Would love someone else to chat to about this.

x

 

[kit10grl]

Not quite the same but our DD has a genetic condition and while we would like to have another child we really want to consider genetic testing for ourselves before we try to assess our risk of the condition occurring again. I'm not totally sure how we go about getting the tests done though? Have you consulted a GP or anyone yet?

 

[sequeena]

Hi, we just started the genetic testing journey. My son may have a genetic condition from my side of the family (we are unsure of what but there is a strong familial male link of learning dfficulties/disabilities). We're also WTT until we know the results and whether or not I am likely to pass the condition onto another child.

 

[curiousowl]

I had it done since I'm from a high risk ethnic group and I just wanted all the information I could get before starting. I'm in the US though so not sure how much it helps you. My ob/gyn did the testing. We talked about it when I went in for my yearly exam and then I had the blood draw. If you don't have a family history it probably makes sense to test your OH first because if he's not a carrier then you don't even need to be tested.

 

[Loobs]

Thanks for all your replies, nice to know I'm not alone in it!

My OH actually called our GP today to make an appointment about it. So not sure what happens from here, will be sure to keep you posted. However, our GP is a nightmare to get an appointment so the soonest was the 25th of March!

There has been lots of worry and heartache in OHs family already, due to cystic fibrosis and we would prefer to know about the risk so we can be prepared.

There is no history on my side - I'll only get tested if OH is a carrier.

It's just a worry. Plus with a TTC date of May - well, that might be pushed back.

X

 

[hola47]

Hi, we are in the same situation as you Loobs. When I saw my family doctor for my pre-conception appointment and chat, I mentioned I wanted to get tested. He sent in a referral to the genetic testing clinic; this was at the end of January. I had not heard from them, but wanted to make sure they had received my referral, so I called them, and they verified they did, but due to an influx of referrals, they would be booking appointments in the next 4-6 weeks. That was over 3 weeks ago that I had called them. I still have not received an appointment time. I have no clue how far in advance appointments are booking, and we are planning on starting TTC in June.

I really don't want to push back our start date, but at the same time, want to really make sure we have explored some of the possibilities/options before having a kid. I don't know how long it takes to get the results either, once they do the actual testing.

There is also no history on my side, only DH's.

Loobs, you will have to keep me updated with how your journey goes.

 

[Loobs]

Thanks for your reply! Sounds like a pretty similar situation!

I would really prefer not to push our date back but if we need to, then that's just what we will do. Would be interested to hear when you get your appointment and what the process is like. My OH is a bit nervous about it all!

X

 

[Springermommy]

My sister is a carrier for Sandhoff's Disease which is similar to Tay-Sach's. The disorder causes the child to die before age 3. Her husband was not a carrier and even if he was, the chances of their kids having it are pretty slim.
DH and I would definitely like to get tested before we TTC. Better safe than sorry!

 

[sparklygirly]

Hi Loobs,

I am in a similar situation, except it is me with the family history of CF. My husband and I were referred by our GP to the Clinical Genetics team at a nearby hospital in September and we finally got our appointment in February (I think our referral was lost which delayed things somewhat but certainly be prepared for a bit of a wait). At the appointment they took down details of our family trees and then we had blood samples taken (my husbands will only be tested if it turns out I am a carrier). Also be aware that they may need details of the precise mutations that your family member with CF has in order to test you and how those mutations were inherited (ie which mutation came from which parent). We have been waiting for our results for a couple of weeks now and no news yet!

Hope you get your appointment quicker than we did and good luck.

 

[Loobs]

Hi there

Thanks for your reply - it's much appreciated! And thanks for sharing your story, sorry you had to wait so long for your appointment. I am prepared for a bit of a wait - the nearer TTC gets the colder my feet get

Interesting that they might ask about the specific mutations and which parent they came from. Not sure how we would get this information though, complicated family set up! But thanks, I hope we can be prepared for the questions they'll ask.

Good luck to you too - I'd be interested to hear how you get on x

 

[hola47]

I still have not received a phone call with my appointment. I think I will call later this week if I still have not heard from the clinic.

If there is anyone who has ever been tested before, how long did it take to get your test results back? I feel like I am running out of time here

 

[Loobs]

Sorry to hear you've not got an appointment in yet. Definitely give them a call to chase it up. Hope its not too long for you x

 

[sparklygirly]

I still have not received a phone call with my appointment. I think I will call later this week if I still have not heard from the clinic.

If there is anyone who has ever been tested before, how long did it take to get your test results back? I feel like I am running out of time here

I am still waiting for results 4 weeks after being tested...will let you know how long it takes when I get them back.

 

[tverb84]

Last year my dad was diagnosed with MS could that be a genetic disorder?

 

[kit10grl]

I still have not received a phone call with my appointment. I think I will call later this week if I still have not heard from the clinic.

If there is anyone who has ever been tested before, how long did it take to get your test results back? I feel like I am running out of time here

I am still waiting for results 4 weeks after being tested...will let you know how long it takes when I get them back.

When DD had genetic screening it took almost three months to come back but they were looking at her entire genetic code for issues. I would assume it should take much less time than that if they are looking for a specific condition as they would know where to look. It will depend on which testing centre your results are sent too and how busy that clinic is. Ours served a huge area of Scotland and so it took a bit longer than some other clinics might have.

 

[hopeandpray]

Last year my dad was diagnosed with MS could that be a genetic disorder?

There is no known gene that causes MS to be genetically passed on

 

[tverb84]

Last year my dad was diagnosed with MS could that be a genetic disorder?

There is no known gene that causes MS to be genetically passed on

Ok thanks.My dad's grandpa or uncle also had it.

 

[Loobs]

I'm in Scotland too so no doubt will have a lengthy wait. OHs GP appointment is on Tuesday x

 

[sparklygirly]

I got my results the other day so roughly a month after my hospital appointment and I think mine had been marked as urgent because our referral was lost. It turns out I am not a carrier so they won't need to test my husband. Good luck all waiting for tests or results.

 

[Loobs]

Fab news for you!

My OH had his GP appointment today and has been referred to the genetic doctor for testing. Not sure if the GP really had that much knowledge on it - he was reluctant to refer OH on for tests, telling him that his risk of being a carrier was much the same as the rest of the population. Not sure I buy that, but in the end he decided to refer him.

Will be interesting to see how long it takes for OH to get an appointment with them x