Caveat Emptor

I apologize in advance if I offend those of you to whom I am related or close friends. Writing this is my catharsis and has been keeping me (moderately) sane of late.

Tuesday, July 17, 2007

Damned If I Do; Damned If I Don't

The genetic counselor (Mr. Personality of an Uncooked Noodle) called this afternoon to give us the results of our combined first trimester screening. Iceman, my mom, and I felt pretty confident after the nuchal fold measurement came back at 1.5mm, too confident I'm afraid.

The good news first:

  • Our chances of Cystic Fibrosis are very low as I appear not to be a carrier. The counselor said that the results are not 100%, but we have a "very low risk" of having a child with Cystic Fibrosis. Sounds good to me!

  • Our chances of having a child with Trisomy 13 or Trisomy 18 are 1 in 4,800. Terrific odds! Before the testing my odds were 1 in 245. Quite a nice improvement if I do say so myself.

Now the not so terrific news. Mr. Personality told me that based on my age alone and before any testing was taken into account I had a 1 in 136 chance of having a child with Down's Syndrome. The combined results have come back that I have a 1 in 80 chance of having a child with Down's Syndrome. Not such good odds, relatively speaking.

In my last post I had said that we would consider more invasive testing if our odds were greater than 1 in 300 and in my mind, 1 in 250 was a possibility as well, but shit, I did not think the results would come back like this considering the nuchal fold measurement. My OB said that it must have been the blood work that swayed the results. Whatever the reason, after discussing this with Iceman, my OB, his nurse, and my mom, we are going to do an amniocentesis. It is scheduled for next week Wednesday, July 25th, the day after my 38th birthday.

I was concerned when they scheduled it next week because on the day of the test I will only be 14 weeks 3 days. I voiced this concern to the lady who called to schedule the test. She said that the doctor reviewed the results and wanted the test scheduled in the next one or two weeks. I am glad to do it soon, but I will double-check with the doctor before he punctures me with that needle.

I have to say, following the initial news, I was upset and anxious, but I feel better now. I do not feel that our baby has Down's Syndrome (poo poo poo, knock on wood, bite my tongue). For the time being, I am comfortable in our plan to do an amnio and will handle each development as it comes.

It will be cool to find out the gender before 20 weeks! Now that is a silver lining!!!

I haven't told my close friend, S or my sister yet; I just did not have the strength today. I am very drained, tired, and constantly THIRSTY. I could drink a baby pool full of ice water in two shakes of a lamb's tale for goodness sake!

1 comment:

eatmisery said...

Pregnancy will make you want to drink the entire lake. Consequently, you'll be up peeing all night long.

I'll keep my fingers crossed for the amnio. I never had one, so I don't know what it'll be like.

I do know, however, that you're going to be an amazing Mom. Where are the belly pics?