Genetic testing

[BBYfever]

I was talking with a girlfriend that is waiting until after her wedding in October to TTC this weekend, she was telling me that she already did a panel of genetic testing to ensure she was not a carrier of a recessive gene that could be passed along to her baby. I was surprised, because I have been to a couple of appointments about TTC and my dr. Never mentioned anything about having these tests done?!?! I plan on discussing it with my DR at my next appt. in April, but wanted to see if other people have been tested for these...is my Dr. Just clueless?!?! Lol she tested all of my hormone levels, but never mentioned checking for genetics.
Please share your experience with this!!!
Below is a list that I found that is the typical diseases that are tested.


Bloom Syndrome - recessive
Fanconi Anemia - usually standard recessive (12 known genes), with one gene being X-linked recessive.
Canavan Disease - recessive
Gaucher Disease (which is the one that some of my family members are carriers for) - recessive
Cystic Fibrosis - recessive
Niemann-Pick Disease - recessive
Tay-Sachs - recessive
Mucolipidosis - recessive
Familial Dysautonomia - recessive
GSD Ia (Glycogen storage disease type I)- recessive
MSUD (Maple syrup urine disease) - recessive

 

[purplecupcake]

Does she have family members that have recessive genetic disorders? I have only heard of people being tested if they have a family history. At my first appointment with my midwife she went through a list with my husband and I, and since we don't have a family history, we won't be getting any kind of fetal testing done.

When it comes down to it, if you want to be tested for something, you need to advocate for yourself and proactively request it. It's your body, you can request any kind of testing that you want, even if it is not straight up offered to you by your practitioner.

 

[SamStormchase]

I have a recessive disorder. Both my parents have the rogue gene. However, as I am the person WITH the disorder, the chance of my husband having the gene is so little that they don't carrier test for him, nor test my baby if I were to conceive as the likelihood is SO slim.

The same goes for Cystic Fibrosis as far as I know. However, if she has someone in the family with any disorder, it may be worth just asking what the likelihood of the baby having the disorder would be, and therefore whether it's worth testing.

 

[BBYfever]

Good to know, I am not sure if she has a family history or not. I will ask about it, but since I have no known family history of any of those genetic problems, I guess I won't worry!
Thanks, ladies!! Sam, wishing you all the best!!!

 

[curiousowl]

I don't think you need to worry unless there's a family history or you're from a high risk ethnic group, in which case you'll know. I am so I had carrier genetic screening. Because I came out clear for everything they didn't need to test DH since he's not from the same group.