How it went and the full story

5/10/12
Warning, this post is a little long, but it seems like I’ve explained this whole thing a hundred times. I’ve decided to just make business cards and hand them out saying “just visit my blog”. I’m only half kidding, but here is the whole story…
Today is over. I am thankful. I slept surprisingly well last night, although I woke up several times, I was able to get back to sleep.
Our appointment was for 9am this morning, I was told to bring a book and be prepared to wait. My initial thought was “there is no way I’m going to be able to concentrate and read anything.” Thankfully they had a TV in the waiting room and I didn’t have to wait as long as expected.
A week ago we had a 12 week sonogram that measures nuchal translucency (the scruff of baby’s neck). It measures the amount of fluid in that little pocket, if the measurement is high it can indicate that baby isn’t able to circulate fluid like it should. Normal is less than 2.5mm, ours measured 6mm, which is pretty significant. It is considered a “soft” marker for chromosome abnormalities or heart defects. I also had lab work drawn with it, which was actually normal, however the blood work combined with the NT measurement doesn’t bring my risk to “normal” yet. So we were referred to maternal fetal medicine for further genetic counseling and testing. That appointment was today.

We met first with the genetic counselor to talk family history (moms, dads, aunts, uncles, cousins, grandparents, siblings). We talked about my 3 previous losses, this pregnancy and our understanding of why we were there. She went through our options for testing so fast it made our heads spin, and I’m not sure I could tell you exactly what she said anyway. And I’ll tell you, she could whip out a family pedigree faster than I could draw 2 lines.


Our next step was to see the sonographer to re-measure the NT, look baby over in general and check position of the placenta in case we decided for the CVS (chorionic villus sampling) test. The sonographer was super nice and very calming. He did a really nice job of explaining what he was seeing and what he was looking for. When he first measured the NT, his comment was “I thought the measurement said 6.” I told him it did and asked what it was now. “I’m not getting 6” he said. The measurements he was getting were closer to 4mm, which is still abnormal, but less than last week. I was encouraged when I heard that, even though I know it’s still not “normal”.
There were some other things that looked good for our little one as well. We could clearly see the nasal bone and nose, which is good. Apparently, in baby’s who have Down’s syndrome, it may be difficult to see at 12 weeks. Our baby has also grown half an inch or so in a week, which is reassuring as well.
I didn’t get a good picture of the NT from today, but got a great picture of this little baby’s profile. You can make out nose, lips and chin.


This was the fun part of the morning really. The sonographer said my placenta was in a perfect spot for the CVS and the baby was way on the other side of the apartment, so it *should* be an easy procedure if we decided to do it.
Kerry and I talked about it a bit. I’m an information person, I like to know what I’m dealing with and how it’s going to affect the course of treatment from here forward. The risk to the baby for the CVS is almost the same as the amniocentesis, which is the other option for chromosome studies but can’t be done until 16-18 weeks. We elected for the CVS for a couple of reasons. One is that we’d have the results sooner and the other is that by waiting for the amnio, we cross the time frame when I lost Knox. If the baby would die between now and the time for the amnio, it would be harder to get tissue samples for chromosome studies to determine what *might* have happened. And Kerry said “you’ll be a wreck if you wait another 3 weeks”, I’ve gotta say he’s right too.
The CVS test is where they insert a needle through my abdomen, through the uterus and into placenta. They collect a sample of the chorionic villus (which are the finger-like projections of the placenta into the uterus), that contains virtually the same genetic material as the baby.

They’ll send that sample off and the first results we’ll get back within 48-72 hours, since its Thursday that means we’ll hear on Monday sometime. The initial results will tell us whether our baby has one of the more common chromosome abnormalities. It tests for trisomy 13, 18, 21, and XY (I think that’s all of them). We’ll also be able to tell for sure if this baby is boy or girl. Then in about 2 weeks we’ll have “final” results which maps out other less common chromosome issues. If for some reason (there is a 1% chance) we can’t get results, usually because there are both normal and abnormal cells in the sample, we will have an amniocentesis at 16 weeks.
Even if the chromosome studies are normal, we’re still not considered out of the woods yet. We will go back to maternal fetal medicine for a very detailed sonogram and fetal echocardiogram to look at the structure and function of baby’s heart. Another common problem with babies who have a thick NT is heart defects. That will happen at about 22 weeks, the end of June or beginning of July for us. If that test comes back normal, we’ll be considered “in the clear” in terms of the big stuff.
So that’s all the technical stuff, as for me I’m doing okay. I’m a little sore where the needle went in and am told to expect to be sore for about a week. I have to say from the nursing perspective it was really neat to watch the needle go in and through my abdomen on the screen with the sono. I was given pretty strict instructions to take it easy for the next week. I mean strict…no standing for longer than 30 minutes, no lifting more than 30 lbs and no strenuous activities.  Sheesh, for a whole week? I reminded them I have 4 children, but I’m sure the big guys will help. I’m thankful Kerry was home the rest of today and will be home tomorrow.
It seems like we’ve had so much “bad” news lately (the genetic counselor was very much a worst case scenario kind of person), that we are focusing on the “good” news we’ve had. Things like the baby is growing normally, the NT was less this week and the major structures of the brain are there. We will have an anatomy scan around 20 weeks in the OB office where they’ll check growth again, look at the major body structures to make sure they’re all there and doing what they’re supposed to. I am thankful for the peace I had this morning after we talked to the genetic counselor. God has brought peace that only He can and I so appreciate the prayers that have been said on our behalf. We welcome continued prayers for the rest of this pregnancy and this little baby.
We trust that God has knit this little child together for His glory. We don’t know what lies ahead, but we are trusting that God will guide us through it all. It is difficult to not know what is in front of us, but we know that God does. We pray for wisdom for the doctors caring for us, wisdom and peace as we get results and approach the point in my pregnancy where we lost Knox. I thought this was a neat picture of baby’s hand. It’s so incredible.

 
 

2 thoughts on “How it went and the full story”

  1. Thanks for sharing, Erin. It makes it a little easier to understand.
    All the things they do now that 31 years ago didn’t even exist. They dindn’t even do a sonogram on me! I think I could have been more prepared for Jenny if we had known some of these things. But we didn’t, so we coped the best we could!
    Our prayers are with you.
    Love,
    Aunt DEE. 🙂 🙂

  2. Thank you for your openness and for your testimony of trusting in our great God. He is in control as we pray for your new little one and all involved. Love, Aunt Ruth

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