Wednesday, 4 July 2012

14 week ultrasound Downs Syndrome and Edwards Syndrome non-invasive series

14 week ultrasound Downs Syndrome Trisomy 18

You would think that as many times as I have been pregnant (this is number 6) and with my history and all that I have been through I would have heard of everything by now.
So when my doctor suggested because of my age, that I get tested for Downs Syndrome and Edwards Syndrome - I really had no clue what Edwards Syndrome was. But since the test is a non-invasive series of blood tests coupled with an ultrasound that specifically measures the nuchal fold, I said sure, and then went about my research on Edwards to see what it is that I am at risk for now that I did not know about before.
What is Edwards Syndrome?

It did not take long to realize why I had never heard of Edwards before, the life expectancy of Edwards babies, if they survive to birth, is pretty short. Only a small percentage (5-10%) are expected to survive their first year. I will write more on Edwards later, but for starters Edwards Syndrome is a genetic disorder also called Trisomy 18, where for some reason baby gets three sets of gene 18 instead of just the two he is supposed to have. But I tried to stay positive, and when my first round of blood tests came back normal, I was relieved, but still hesitant.

And I do not mean any disrespect to those who have babies with Downs Syndrome or Edwards Syndrome, but I fully expected Abigail to be my special needs baby, and since I never got the chance to be her mom, well, I am just not sure I am up to the task (although history has shown me that you tend to step up to whatever your baby needs.)

My 14 week ultrasound showed everything about the nuchal fold to be within the normal range (as well as showing us that even this early, our baby is definitely all boy!) I was relieved and even pretty much expected this pregnancy to go along normally (or at least normally for me - with my weekly shots of progesterone, modified bed rest, and one or two more visits to the ER with "unexplained" bleeding.)
Foot Fetish Anyone?

So I was all excited at our 20 week ultrasound to confirm that our baby boy was healthy and all was well. I was hoping for some good pictures for his scrapbook, maybe a cute little wave for the DVD.
The ultrasound started out great, baby was sleeping so we got some good shots at first, then he woke up, curled into a ball and hid below my pelvic bone. The tech seemed obsessed with getting good pictures of his little feet (which are cute, but really, do we need to spend 15 minutes on this?) My three kids were getting restless, and I wanted to see my baby boys face. After a while, the tech said she could not get any more good pictures and she would see if the doctor could get any. I inquired about a few baby parts: kidneys? Yes he has two and they look normal. Heart? yes it has four chambers and is measuring fine. Stomach and intestines? Look fine and are in the right place. Okay. And then she left. I forgot to ask about the large dark spot I saw a few times on the ultrasound, but figured since she did not mention it, it must be normal. (Should have known better.)

Then the doctor comes in and tells us that based upon both my lab tests and the previous ultrasound, that my chances of having a baby with Downs Syndrome or Edwards Syndrome have gone from 1 in 100 (based on my age) to 1 in 60,000! Woo hoo! But my joy would be short lived.
So the doctor tries to get some shots of the baby, again looking for his feet and hands (is everyone here on a foot fetish today?) But baby is not cooperating, his feet are crossed and pulled in real close to his hands and body. (I find out later in my research why everyone is looking for the feet - malformed feet is a common birth defect in babies with Edwards Syndrome)

What the Heck is a Choroid Plexis Cyst?
After a short time the doctor tells me that my baby has a choroid plexis cyst (also called a CPC). He says that the CPC is not a birth defect and it will do absolutely no harm to the baby, and they usually go away by birth, but the one in my baby is "significantly" large (yes, he said significantly - like three times) and so he really thinks we should keep an eye on it and get a better scan. He then says that the reason they look at CPC's even though they do not harm the baby is that in some cases they are associated with Edwards Syndrome. And that despite my earlier test results, my statistics have changed (he did not elaborate on this.)

So basically what I heard is "your baby has a large mass in his brain. It will not hurt him, but it means that he may or may not die at any time between now and his first birthday - but try not to worry."
Basically the only way to be sure is to do amnio - which is not worth the risk to me. Whether or not he has Edwards - I do not want to end his life any earlier that it will be naturally - I just need to treasure every moment that I have with my baby, because I know all too well that life is just too short.

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