Genetic Testing - When??

Hi,

This is my first pg and I am still getting upto speed on everything, so please bear with me :-)

I am six weeks pg and I was wondering is it normal to have tests for genetic disorders, and if it is at what stage does this happen? My husband was adopted so he doesnt know anything about his parents and whether they had any genetic issues. We thought it would be a good idea to do some tests if they are available.

We are booked into to go to the public hospital at 12 weeks for our scan and have just had a blood test done by the GP. I mentioned to my GP about genetic tests and he didnt seem to know much about it, or to concerned? Is it something I mention to the mid-wife at the hospital?

Any thoughts and help would be appreciated.

Thanks

Sam

Hey Sam
With your hubby not knowing his genetic background I can understand you're wanting to do testing and it's probably a good idea.

It's not something that is done as part of standard pregnancy care. My husband and I pursued this because there are a number of members of my extended family with cystic fibrosis. We did it prior to conceiving though.

Being that you're already pregnant, I guess the question then becomes what would you do if the testing showed problems. If you would continue the pregnancy regardless it's probably not worth doing. Alot of abnormalities and genetic conditions can also be picked up in the 20 week scan.

Finally, if you were to undertake testing it would need to be for specific conditions - CF may be worth testing for as it's quite prevalent. There are probably a few other reasonably common conditions worth looking at as well.

We got a referral via our GP to the genetics clinic at a major public hospital. We had to wait a month or two but all the testing was free and they went over everything with us very thoroughly.

All the best for your pregnancy I'm sure everything will be fine, as it is the vast majority of the time ;)

Unless there is a family history you generally wont have genetic testing offered to you.

If you have the 12 nuchal scan & blood test done and you end up with a high risk result genetic testing will be offered to you in the form of an amnio or CVS. Both carry slight miscarriage risks.

Genetic testing can be expensive. I've had two lots of it done - once on my genes to see if there was a reason for my miscarriages (nothing found) and I also had an amnio done on the bub I'm currently expecting. Both had to be done privately and both were expensive.