Pre Conception Genetic Testing

[claudiakishi]

Has anyone done this, particularly through Natera? My RE suggested it and I cannot get them (Natera) to call or email me back. I googled them and they get terrible customer service reviews.

Are there other companies that do this? Also if you did it, did you find it was worth it? I’m 41 and like to have as much info as possible.

[thoseareradishes]

We did it for our donor egg cycle. Well, H had to do it, and the donor. We declined one donor because she was a carrier for cystic fibrosis. The donor we picked was not a carrier for any autosomal recessive disorders.

[lovelyshoes]

There’s no one in their office in charge of this? My RE had a heretic counselor and everything wen through that office. Best of luck.

[claudiakishi]

Aug 18, 2020 15:02:28 GMT -5 lovelyshoes said:

There’s no one in their office in charge of this? My RE had a heretic counselor and everything wen through that office. Best of luck.

This has been my complaint with the office. The doctor is good but can be unhelpful with stuff like this. It’s a pretty large medical system, I was surprised they outsourced the testing.

[Mushe]

We did do karyotyping as part of a repeat loss panel, but I think it was just before this pre-conception testing became popular through Natera. It was honestly pretty nice to know what we were or were not dealing with.

@@@@ mention
I had no idea I was a CF carrier until my NT scan with my first child, and the genetic counselor called me assuming I knew.

[aprilsails]

I don’t know if my answer is useful to you, but I did do some specific genetic screening before TTC through the local hospital genetics lab.

In my case my cousin is a known carrier for CF and has a non-standard mutation (one of the ones that they don’t standard test for). He has a son with CF. For reasons unknown, my Aunt and Uncle have never done testing themselves to determine which side of the family the gene was passed through, but my Grandma had two siblings die in infancy from CF like symptoms (it didn’t have a name back then) so we all assume we could be carriers.

My GP finagled the paperwork a bit so that OHIP would cover the testing for me, or I would have been $1000 OOP. I know they did a broad screen as well as additional specific testing for my cousin’s mutation. I think the blood draw was for 8 vials, and my results took over 5 weeks because of the specialty tests. I came up without any issues and am not a carrier myself.

If I didn’t know about my fairly direct link to CF I wouldn’t have done the testing in all likelihood, although this was all 9 years ago when the quick genetic tests were not as readily available.

[lovelyshoes]

My regular ob actually does extensive blood testing too. He’s always been of the mind that more info is power and I agree. Both REs I went to have the genetic work up as part of standard procedure no matter the age. I think it’s important. One of them uses genescreen I think, the other one is fully in-house. I would definitely do it, I don’t see why not. Best of luck.

[thedutchgirl]

My OB did a couple standard ones--CF and various muscular dystrophies. If we move forward with IVF or other treatments, we do plan to screen for the other 176 or whatever it is that you can test for.