This post has been written over several weeks. I started writing it on 1/21, at 13w4d. I finished it on 2/5 at 15w5d.
On Wednesday, January 16th, I had the first part of my sequential screen done, which included an ultrasound of our (almost) 13 week baby and some bloodwork that I had done at a local lab. (This is a 2 part screen, where the bloodwork is done weeks apart).
On Monday, Jan 21st (MLK Day), I received a call from a genetic counselor. After telling me that my risk for Trisomy 18 was 1 in 2100 (great for my age), she dropped the bomb. For my age, an appropriate risk for Down Syndrome would be about 1 in 360 (about 1 in 700 babies have DS); my result was 1 in 25. She recommended an amniocentisis (which I declined because of the risk to the baby) because I'm too far to schedule a CVS (which I also would have declined for the same reason; I dont do invasive prenatal testing). She was quite suprised that we wouldnt do the tests; I explained that since abortion would never be an option, there was really no reason for me to have tests that would put my baby at risk. Either the baby has DS or he/she doesnt. Sort of like they have brown eyes or they dont. I love him or her; the rest of it is already icing on my miraculous cake. She then told me about a relatively new maternal blood test, which seeks out fetal DNA that is in the mother's blood and would have the markers for DS if they were present. It's new so it isn't widely used, but it is considered 99% accurate and has no negative impact on the baby. It is offered to women under 35 who have an elevated risk of DS and no previous history of a baby with DS. Which is me. She told me to call Dr. B. (whom she'd already spoken with) and that I'd most likely have to consent to genetic counseling before I'd be given the test.
I called Dr. B. and he had left word with his staff that I'd be calling. (He knows me so well.) The paperwork was already waiting for the noninvasive prenatal testing. This test is 98.6%; the false positive rate is 0.2%. So, having a 4% chance of the baby having Downs, this test, for us, is the best chance to find out if that 4% is really almost 99%. (For comparison, the Sequential detects about 92% of babies with DS, with a 4% false positive rate.)
Monday, I spent the afternoon going between just praying that everything is as it should be (be that the baby has DS or is normal) and that we will be the best parents no matter what and researching Down Syndrome. Because, while I have a basic understanding, I dont have a first person knowledge. I was shocked to learn that approximately 92-95% of pregnanices where the child has DS are aborted. Reading those numbers made me sick. I love my baby already. Do I want him or her to be healthy? Of course; I want them to have a life without whatever struggles I can save them from. But would I kill them because they are different? Because my life will be different from expectation? I clicked out of the site because I just couldn't handle reading the rest.
Dr. B. is a dream, really. Love the man. He called me on Thursday morning, as I sat waiting for Bobby and Maya in the pick up line. In his typical, laid back way, he told me not to worry. Yes, 4%was statistically higher than expected for my age, but it wasn't terrible. And, he'd reviewed the ultrasound images and said they looked great; while it's not exact, he would have expected to see something and he didn't. So, have the additional blood test, and it will give us the best answer, and we'll go from there. But to try not to worry. And not to bother with the second part of the Sequential.
Friday afternoon, the 25th, my MIL came over and I left for the hospital, picking up Peter on the way. Initially, I was a little ticked. I walked into the testing center and they said they didn't have the prescription. Since Dr. B's office closes at 2pm, I was really a bit irritated but they had the magic number (it was 2:30) and caught a nurse who was still there, getting another copy of the order. Yay. So then they give me a list of Quest labs... Um, yeah- Quest doesnt do this test. (Quest is normally where I have bloodwork done). But we're told to sit and someone would be with us. Peter grumbled, and I agreed, that if I drove 45 minutes to pick up a lab slip to take to a lab near my house- when this could have been done online-, fire might shoot out our ears.
But things worked out. The person who reviewed the slip with us(and had to rewrite it for the hosptial because Quest doesnt do it) knows me and our history. And, prayers answered, offered to check the computer for the results earlier than we were told they'd be released. When I saw Dr B for my 15w appointment, he too offered to bother the lab early. Of course, as of Nicholas's birthday, the lab still didn't have the results... I'm supposed to call in on the 5th and, if they still aren't back, then the best guess is that they'd be in by the 8th. The waiting isn't agonizing. I'm sure part of it is because the results don't change anything. I'm still carrying a beautiful baby boy, whether the test says that special boy has Down's or doesn't. (On a positive health note, the AFP screen (which I said yes too, since the part 2 of the sequential is pretty pointless) came back negative for open neural tube defects and my 15w sugars-after-eating (since I had gestational diabetes very early with Bobby and Maya, we opted to do a sugar test now and, if it was high, do a week of monitoring to determine if I needed to start intervention early) test came back great, so I'm done with sugar testing until 26w).
Today, the results were finally in the computer: completely normal. Michael's DNA does not show the triple chromosome marker of Down syndrome.
I'm flooded with relief. While I can say with honesty that, had the results been different, my love would not be changed and I would still be just as excited to welcome our son into the world, having just been further prepared for him by his in-the-womb diagnosis, there is still a relief that to know, for what the tests can show and predict, that he is a typical, growing baby. A healthy baby. I cant tell what the world will hold for him but, at least at this stage, it's all looking typical.
I'm about to snuggle Bobby some more (love these post-nap snuggles!) and light a candle in thanksgiving. Praise God for all my kids, and for their health and well being.