Tuesday, February 7, 2012

Diagnostic Testing: Finding Out What's What

Nothing says "birthday" like tossing your cookies first thing in the morning. But usually it's from combining beer, jello shots, and whiskey. For me, it's from growing a monster in my guts (my morning sickness with Spencer was over in no time so I'm hoping for a repeat). I like to think that's his/her way or saying "HAPPY BIRTHDAY, MOMMY". And speaking of that sentiment, I found this in my work Inbox this morning:

The picture is about a month old but I love it. Made my morning!

But this really isn't about my 33rd birthday. It's about yesterday.

Yesterday we met with a Maternal Fetal Medicine doc that works with our OB/GYN. Their practice deals with all the high-risk pregnancies and I fall into that category because of Spencer's diagnoses. We were there to discuss our options are far as diagnostic testing goes. As I've said, we don't want to be blind-sided again. We want to know what's what and these are the people to inform us.

Right off the bat, I had an ultrasound. Only being 6 weeks, there wasn't much to see. They embryonic sac appeared empty to me until a tiny little gray wiggle was pointed out. It was the heartbeat. That's all we could see but that's all we needed to see. It was beating away and it was awesome. Spencer was there (and the nurses loooooooved him) and I heard Todd say, "We just saw your brother or sister!". After that, we met with the doctor and got down to business.

It's not that he told us too much we didn't already know. But hearing things from a medical professional and not the unreliable interweb makes a big difference. One of the first things he set straight had to do with statistics. "They" say there is a 1 in 200 chance of having a miscarriage after a diagnostic test. That is a NATIONAL average. Basically, that number comes from any yahoo performing the procedures. The more experience a person has, the lower their number is. In 11 years, our OB/GYN has only seen ONE miscarriage after diagnostic testing. Yeah, odds may not mean much to us anymore but that one made me more comfortable with going forward.

Then we discussed out testing options.

Basically, any blood work or ultrasound is kind of going to be useless to us because Spencer slipped through the cracks. Screenings are just screenings. They aren't full-proof. But there ARE full-proof options for us and that's what we discussed. It was narrowed down to:

1. Amniocentesis - a prenatal test in which a small amount of amniotic fluid is removed from the sac surrounding the fetus and is tested. The sample of amniotic fluid (less than one ounce) is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The fluid is then sent to a laboratory for analysis. Different tests can be performed on a sample of amniotic fluid, depending on the genetic risk and indication for the test. If your doctor has recommended an amniocentesis, the procedure is usually scheduled between the 15th and 18th week of pregnancy. The accuracy is 99.4%

2. Chorionic villus sampling (CVS) - CVS is a diagnostic procedure which involves removing some chorionic villi cells from the placenta at the point where it attaches to the uterine wall. An ultrasound guides a thin catheter through the cervix to your placenta. This is the most common method. The CVS procedure collects larger samples and provides faster results than amniocentesis. CVS is usually performed between 10 and 13 weeks from your last menstrual period. CVS may be chosen over amniocentesis because it may be performed earlier in the pregnancy.

We were wary about the CVS because if you comb the interwebs, there is a lot of talk about limb deformities associated with the testing, specifically a lessened number of fingers or toes. I would hate to say, "Well, we found out our baby has no genetic disorders but he'll only have 8 toes". I'm going to love him no matter what. Despite Spencer's diagnoses, he is INCREDIBLE and I wouldn't trade him for anything. But I just need to know. 34 weeks of wondering is just TOO MUCH. But the point is, I don't want my need to know to cause my baby to be short any digits!

This fear was immediately squashed by the high risk doc. He told us that is ONLY a risk when the procedure is performed BEFORE 10 weeks. Some people will offer the test starting at 8 weeks and at that point, the fingers and toes are developing and when you snatch the tissue, you get something you shouldn't (and again, this does not apply to people who are properly trained experts).

For example, the doctor performing our test is a BIG DEAL. He only comes in to the practice twice a month specifically to perform diagnostic testing. He is the Vice Chair of OB/GYN and had more honors and accolades than I can list. If you're having a diagnostic test, this is the guy to have do it. And he will provide us with his exact miscarriage rate, which I am expecting to blow 1 in 200 out of the water.

I guess I should state that we decided to go with the CVS.

It can be done sooner (it will safely be done when I am 12 weeks and 3 days preggo so his/her digits are safe) and we will get the results sooner. Then I will be able to relax and enjoy the rest of my pregnancy knowing what's what. The CVS, like the Amnio, will only test for genetic disorders, no tubal defects. We will do a blood test at 16 weeks to check for Spina Bifida, and an ultrasound at 18 weeks to tell us the gender and look for things like Cleft Pallet and anything else that can't be seen any earlier.

I feel good that we made a decision together and that the test is scheduled with doctors I feel VERY confident in. I'm only 6 weeks along and I already feel so much more at ease. But the wait time after the test is going to be excruciating. And when the phone rings with the results, I may very well throw up. I feel sick just thinking about it.

But that could just be the morning sickness.

So I see my OB/GYN again in 5 weeks and get the diagnostic testing done in 6 weeks. I wish there was a way to fast-forward time so I didn't have such a heavy head. Todd truly believes the baby is fine and a small part of me does, too, because...and again, we don't put stock in odds anymore...but what are the odds of this all happening TWICE? What kind of higher power would put us through the ringer AGAIN? I'm trying to stay positive. It's all I can do.

Spending time with Spencer always helps. He's going to be an AWESOME big brother.

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