If you had genetic testing come in

JAM2000

First of all, thank you all so much for your kind words.

I'm just starting to wrap my mind around this whole genetic testing idea. What does it involve? If something is chromosomal, like my Trisomy 13 pregnancy, what would genetics have to do with that. Aren't chromosomes different because they are something that can just mutate like that? Also would this genetic testing tell us that we are predisposed for something like Lou Gehrig's disease, etc? Because I don't know if I want to know stuff like that.

Mc_Newlywed

I sent you a pm.  I'll go add to it now....  

50ftqueenie

I'm not entirely sure it would be the same for you but my doctor just did a bunch of bloodwork. Probably close to 7 vials or so. They're checking for defects such as Fragile X and some other things that I had never heard of. I don't think they would get into you being predisposed to certain diseases, I think it's more to see if you're a carrier for things which would help explain infertility and/or recurrent losses. Again, I'm so sorry you're going through this. It sucks.

metucker

I got genetic testing done because of a hereditary condition that my dad and brother suffer from. My OB said since it was only my chromosomes being analyzed, there is really only so much it can tell you. There is also YH, and any mutations. I agree with 50ftqueenie in that it will probably just tell you if you are a carrier of certain things. I doubt it can hurt since it will give you the most information to work with. I am sorry you are going through this. 

JAM2000

Mc_Newlywed:

I sent you a pm.  I'll go add to it now....  

thanks! I just replied. I always forget about pms

molldoll71

For us they did bloodwork for like cystic fibrosis and other ideseases like that  and they did a family history .  Very easy.  My sister had work done after her miscarriage at 12 weeks and they found a clotting disorder so were able to medicate and monitor her for the pregnancy.  She had two healthy pregnancies prior.  Good luck.  Don't be scared.  And agaian I am so sorry.

monica92603

We both had it done after we had our late loss.  I had turned up w/ a clotting mutation during the recurrent pg loss blood panel that prompted them to decide to do the karyotyping.  I guess there can be several chromosome mutations that will cause miscarriage.  I've noticed some mentioned in people's sigs over on the PgAL board....."balanced translocation of chromosome whatever"

I do have an insurance heads up though.  We had an issue where Chris was coded wrong and it took us about a year to get it resolved.  Make sure your dr who wants the testing to be done is willing to possibly have to contact the insurance company to say that they are considering the tests "necessary".  Supposedly that is what got us covered.  Otherwise it was going to cost us $1100.

I'm so sorry that you are going through this.

momto3plus1more

I went in for a short genetic counseling session before my CVS -- where they mapped out my family and dh's family. The only thing that stuck out was that I had a sibling born full term w/ spina bifia that passed at birth - 40 years ago they didn't check for that. -- but that was the only red flag in my history. 

I did a CVS with my last pregnancy because I was 40 and had 5 losses and wanted to know one way or another what was going on.  The results that came back from the CVS did indicate a chromosomal issue--  that if neither DH or I carried the same issue w/ one of our chromosome it would have been a problem. but after both dh and I did some blood work  they found out that  I have the same exact chromosomal inversion so that was fine-- in addition that chromosomal inversion is very likely the cause of my 5 m/c and now that I know that one of my DDs has the same I can give her that information when she is old enough. My other kids will have a chromosomal analysis done next time they have a blood draw to see if that have the inversion as well. 

They did a host of chromosomal tests and asked if I wanted to be part of a clinical trial that did additional testing (this was done at the prenatal ctr at barnabas) and that testing would have tested for a whole host of other less known syndromes etc.