Anyone have Genetic Testing/Counseling???

[mimi_n_tre]

I was just wondering what was the extent of the testing. I was supposed to go in tomorrow, but because some of the doctors offices around here are stupid, I won't be able to get in for another week or so.

[Lousli]

I had genetic testing before number 1 to see if I was a carrier for Tays-Sachs. It was just a blood draw and some simple information about the condition. I had the AFP test with her which came out normal.

With my second, I had the nuchal translucency and blood test (first trimester screen) at 12 weeks. The ultrasound looked good but the blood test gave me a high risk of Down Syndrome. I opted for an amnio at 15 weeks. The counseling was mostly to explain what DS and other chromosomal abnormalities are, how they happen, what the chances were that my baby had a chromosomal probelm (according to my test results) and give me further options (do nothing and wait to see, have a detailed U/S-with about a 60% accuracy rate, or have an amnio or CVS). After much thought, we decided on an amnio and found out that she was genetically normal. I have heard that there is a link between bad results on this test and prematurity, but I don't know if it has been verified. Interesting to me though, since she was premature.

If there is anything else you want to know about my experience, such as the amnio procedure, etc. I am more than happy to answer questions. HTH.

[Christine&men]

I am just going to be 35 when DD will be born. So they (Kaiser) offered genetic counseling. I had a Quad Test before which looked good and so we basically went over the different diseases in DH and my family (which luckily aren't too many, husband with slight club foot and I have dysplasia (hip)). Then off to a detailed ultrasound with doctor present and everything looked fine. I read about all the odds beforehand and figured that at my age I am more than likely to have a prefectly healthy baby (99.5%). I was more afraid of them scaring me (with all the statistics) than anything else.

Good luck!

[Mel38]

I had the triple screen and level 2 u/s with my 2nd pg at 35. It stressed me out so much, especially the fear of what I would *have* to do if anything was wrong that I decided not to do any testing with this pg. My advice would be to read up on the tests and also try to think about what you would do with the information. If it is going to help you get prepared, that's a good reason to do the tests. If it will just stress you out, don't do them.

Good luck with your decision.

[nighten]

Blood tests and level 2 u/s here. Plus a nice lady who asked lots of questions about our family histories. I was very reassured from that because there were some maladies I'd assumed were genetic but aren't.

They wanted to do an amnio for even more info but I said no. We have a friend who miscarried from an amnio -- no way in hell I'd risk it. It took us forrever to get pg.

Anyway it was all pretty painless and very reassuring. We knew we'd keep her no matter what but it's nice to be prepared just in case. I'm glad we did it but if it's stressing you out, then don't.

But I'm glad I did. That way I didn't have to spend months worrying about "what if...?" That's just me though.

[Tine]

I am just going to be 35 when DD will be born. So they (Kaiser) offered genetic counseling. I had a Quad Test before which looked good and so we basically went over the different diseases in DH and my family (which luckily aren't too many, husband with slight club foot and I have dysplasia (hip)). Then off to a detailed ultrasound with doctor present and everything looked fine. I read about all the odds beforehand and figured that at my age I am more than likely to have a prefectly healthy baby (99.5%). I was more afraid of them scaring me (with all the statistics) than anything else.

Good luck!

Pretty much the same here. I'm 37, so I was offered the nuchal translucency, blood tests, and level 2 ultrasound + genetic couseling. I opted for the u/s & counseling only. It was pleasant, informative, and not at all scary.

[CathMac]

I had just turned 39 when I had DD and I will be 2 months shy of 41 when I have this baby. It seemed like I was reminded of my "Advanced Maternal Age" (AMA) at every appointment the first time around. I needed reassurance so I opted for an Amnio each time.

Generally they quote a 1 / 200 chance of a miscarriage with Amnio but the actual statistic for the facility I went to is more like 1 / 400. Some facilities can give you the individual statistic for the doctor performing the procedure. This is important for anyone who wants to weigh the risk of a miscarriage against the risk of whatever defect(s) your baby may be at risk for.

As you probably know they have screening tests to get a better idea of what your risk for those defects is based on a variety of factors. I skipped that altogether because I needed to know with absolute certainty what I was facing.

DD's Amnio came back fine and she seems perfectly healthy except for colic which eventually resolved and some minor food intolerances. I just got the Amnio results back this time and everything they tested for is ok. This is a huge relief. Now I can start telling people. I can't hide it much longer now that I'm 19 weeks along!

Good luck with your decision.
~Cath

[*guest]

I took the quad screen and the test for being a cystic fibrosis carrier. All came out fine. I had no particular risk factors except for a slight history of Down Syndrome on my husband's side. It just felt like getting information was the right thing to do.