rjl07 - genetics counseling question

KristysRedBarn · August 2010

I know you went through genetics counseling and found it helpful. A couple of questions for you if you don't mind. I only know half of my family history and don't know the other half terribly well, my family has only been in the US for a few generations. DH has been asking his mom some questions and hasn't gotten very good answers from her, their culture doesn't share much. Would a genetics counselor be able to help us at all? Is it beneficial to do this in addition to genetics testing? Will they do additional testing based on our responses? Thanks for any help or incite you can offer.

Scout05 · August 2010

:::Butting in:::

We found talking to the counselor interesting - I have a better understanding of Trisomys, how they occur and why. They will do testing based off your family history for sure.

Since we didn't have much to share - no issues on either side, no history of abnormal loss (my mom had one m/c at 6 weeks, and M's paternal grandmother lost a little girl late second trimester), so they didn't order extra testing in our case.

Other than being interesting, though, it didn't really get us anywhere the RE didn't. She was the one that ordered the karyotypes.

rjl07 · August 2010

I agree with Allison - it was definitely interesting. Besides going through our histories, the counselor talked about what types of diseases/conditions could be hereditary. It wasn't just about chromomsome issues, but also things like cancer and other things that tend to be hereditary. I think it might be beneficial to go through the testing and then if anything turns up you can talk to the counselor. I was required to go through it for the IVF study. My counselor works in the RE office so I just paid a regular co-pay. The b/w is very expensive so you definitely want to check with your doctor and insurance before you go ahead with it.

Many of the diseases will only occur (or are more likely to occur) if you are both carriers so you and DH should both be tested. In our case, I'm Jewish and DH is Italian and Irish so there are certain diseases that are more prevalent in those populations. They tested us for the ones associated with our side and if anything comes up positive they will test the other one.

We went through our family tree with the counselor, but we only went as far back as our grandparents so you don't need to worry about previous generations. She was mostly concerned with immediate family too so don't worry too much about cousins, etc.

I hope this helps you. Please let me know if you have any other questions. Good luck!

KristysRedBarn · August 2010

Thank you to both of you. It was very helpful. We'll wait for our kareotyping to come back and then if we need to well go to the genetics counseling.

SweetieD21 · August 2010

::butting in::

We went to see a genetics counselor because DH was diagnosed with mild myotonic muscular dystrophy. The counselor went over this test results, the form he has...mild, thank God! She also went over our family history (parents, siblings, grandparents, aunts, uncles, first cousins), my previous pg and m/c, and then discussed in great detail the chances of us having a child with this disease, and testing that's available during pregnancy, if we would want to know if our child was a carrier.

We found the counselor to be very informative, and definitely gave us a lot to think about.

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