Genetic counseling

I spoke with a genetics counselor today. I can't say it allayed all my fears, but it did provide that invaluable second opinion - or rather first opinion from someone that actually knows about this stuff.

Starting with the CPC, my OBG has said that the CPC maybe increases my risk by, for example a factor of 1.5. Another time she said it might be increased from 1/100,000 to 1 in 70,000. And she said based on this she doesn't think my risk rises even close to the amnio risk and thus that I shouldn't get an amnio. The numbers I've seen on the internet suggest a CPC increases your risk by more like a factor of 7-9. The genetics counselor said to use a factor of 10. Score one for Dr. Google. This means that my "less than 1/100,000" which, incidentally I was just informed is the lowest you can get at their facility (which is where I had my first tri screening calculated), turns into "less than 1/10,000....or lower [she added, taking into account that if I was at a more sensitive facility my risk might have been even lower than 1/100,000]" Still lower than the general population. About the same as my age-alone risk for having a live T18 birth.

She didn't comment to much on the breech situation because she said it's considered more of an obstetrics issue. She said that they do not change your risk numbers for trisomies based on breech presentation. It's not a marker. It doesn't increase my risk. That was nice to hear. I tend to believe it when I read that babies with chromosomal problems are breech with a little more frequency than the general population, but it was around this point that she asked if I had been reading the internet. I took this as a good sign that I was getting into 'crazy' territory and should try journeying back to reality. I told her that the numbers I had read for breech in the general population at term were around 2-3%. She said that sounded low to her. She thinks it's higher.

So that's the good. The bad is that it sounds like the second tri quad screening could have added some value. I'd feel a lot better if I'd had those results to back up my first screening, but I still think, based on my research, that the second tri screening is less reliable in picking up T18 and more susceptible to false positives so I'm not beating myself up over not having gotten it.

The other bad was when she said sometimes they do get a baby with just a CPC and NO other findings and it ends up having T18. It happens. I know this. I asked with misguided hope whether there have been babies with extremely low risk screenings like mine and a CPC and T18 and she answered the same way - i.e. what she meant by "no other markers" is no other indication on any screenings or scans that anything was wrong. So it could happen in my case. 1 in 10,000 though, right? She didn't really have an answer as to whether I could take comfort in how well he seems to be progressing at this stage - I think she works mainly in the land of 12-24 weeks -- prime diagnostic territory, she works in CVS and amnio land, by 36 weeks most patients that are sent to peri's have resolved whether they have the problem or not and they stop counting markers.

She asked whether anyone had offered me an amnio back at 19w. Here it comes I thought, a whole new attitude towards amnios over here in high-risk land. I said "first they didn't call me with the results of the ultrasound until the quad screen window closed and then they recommended strongly against an amnio." And I named names. The geneticist said she respected my obg and thinks she's good, which was nice to hear, but also mentioned that while some people look at cold hard numbers when deciding whether to do an amnio, some need it for peace of mind and reassurance regardless of what the numbers say. And it's true, of course, some people have amnios with NO risk factors at all. I do wish I knew for sure that he was ok, but that's fantasy land. Not only can we not see the future, but we don't get to have it work out the way we want it either. And I do not regret not getting an amnio. Given my low risk numbers (and that's what this woman classified me as - "low-risk" for T18) I could not justify putting the baby at risk. And I don't feel any differently now.

She asked if my husband was worried about any of this - another signal that I was crossing into crazy paranoid first-time-mom territory, or maybe she was hinting that my litany of questions and fears were so irrational that they must have been driven by someone else. Nope, just my overactive anxiety which gets kind of out of control when I have four months to google. I said no, he wasn't worried. I still maintain that he's not as worried because he doesn't understand T18. It's really sad. REALLY sad. I have this hunch that if he knew more about it he'd be more concerned. But I wouldn't wish my anxiety on anyone so I've spared him the details.

She finished the conversation by saying that she could look into getting me an ultrasound or even an amnio if I wanted it. She sounded very energetic about this which I wished she hadn't. This is where I wished she would act more like my obg - like, you can do it if you want but I really don't see the point. But I have to realize that the peri's and geneticists get paid when I come in, and these ultrasounds and amnio's are what they do. That's the whole enchilada pretty much. Of course she'd offer. She said she hoped I hadn't been worried about this since 19 weeks and I admitted it's been pretty bad. I said I'd call if I wanted to pursue this further but that given the breech situation I may be 2-3 weeks out from the birth and it seemed a little late. She then mentioned that unless the baby had visible problems at birth, difficulty breathing, etc. they probably wouldn't pursue this further. I think she was trying to sell the amnio or additional ultrasounds, but it really just confirmed what I expected - no one is treating my risk factors as high-risk. No one will without more information. And I think I'm ok leaving it at that for now.