Showing posts with label genetics counseling. Show all posts
Showing posts with label genetics counseling. Show all posts

Friday, May 31, 2013

17w2d tests and good outcomes

I'm feeling really good these days.  I've taken the approach of believing everything is hunky-dory unless I hear otherwise.  It's made this pregnancy a lot of fun, and enjoyable.  No morning sickness has helped also!  I've had the reassuring symptom of very sore breasts the whole way through, and though it's horrid when our small dog steps on them to wake me up in the morning, they've been a great comfort to me that things are progressing as they should.

There are so many other blogs out there with heartwrenching stories and experiences.  When someone has a pregnancy loss, they usually just stop writing, it's so hard to go back to those memories of when there was still hope. When I see those blogs that stop with no explanation, I am so sad for them, thinking that's what happened.  I was just looking at this blog: http://elegyforamy.wordpress.com written by a woman who lost one of her pregnancies at almost 24 weeks.  I can't imagine how hard those later losses are.  But she is now almost full-term with a new pregnancy, thank goodness.  I found her blog today (though I've seen bits of it before) because I googled 17w2d.  It's nice to see how others were doing at the same point in time as I am.

And again, how I am is pretty darn good!  I got results back from the last part of our sequential integrated screening, and my numbers are still quite comforting.  All screened negative, nothing lower that a 1:660 chance of anything it measures for: trisomies 21, 18, and Smith Lemli Opitz Syndrome.  It was also negative for spinabifida and other neural tube defects.  When we weren't sure if those numbers would be so good, my genetics counselor scheduled a tentative amniocentesis for yesterday.  But she called me earlier this week with the good information, and also told me that Kaiser will start covering the Harmony blood test, which is almost as good as a diagnostic test without being invasive and risking miscarriage.  So we decided to drop the amnio and do the blood test instead.  I feel good about the information I have so far, so it's not critical that I did this test, but since it's being offered at a fraction of the price it normally costs (I only had to pay my copay of $20) I figured I would go for it.

I am now waiting eagerly for June 10 to arrive so we can have the anatomy scan.  I really want to find out the gender of our lil' niblet, who apparently is not so little anymore, measuring about 5 inches from butt to head -- legs are still not measured at this point.   But 5 inches!  That's bigger than my Iphone!

I'm not feeling anything discernible in there yet, probably because I'm still so blocked up that I assume every sensation is just gas.  But I've read that most people don't feel the baby's movement until 18-20 weeks, and some feel nothing until 24 weeks.   So there you go.  I do feel the uterus stretching.  It feels like mild cramps.  Nothing to run to the medicine cabinet for, it's just keeping me interested.

On a more mundane note I finally bought some larger bras!  Very exciting for me especially since they were only 6 and 12 dollars at Marshalls.  My stepmom would be proud!  But now I can rotate off of the only one that fit me, and mix it up with 2 others.  Hoorah!

On that boring note, I shall leave.

Wednesday, April 17, 2013

10w4d genetics counseling

Yesterday I had my genetics counseling appointment, which was preceded by another ultrasound, this time with measurements and a photo!  The photo turned out a little odd, it was difficult to see my baby on the abdominal ultrasound, as my uterus is not only retroverted (tilted back toward my spine), but also retroflexed (bent back toward my tailbone).  So it's wayyyy behind all my intestines and all the stopped up stuff within them.  Yuck.  She actually had to tilt the table so my head was down and my feet were up before we could see anything, and I told her to go ahead and press as hard as she needed to.  So she did her best to move things around and finally there was a small gap in all the gunk that was in the way.  So there again was the lil' niblet, wiggling and bopping around, being cute as ever.  She/he even brought a hand up to her/his head at one point, like it was scratching an itch on the cheek.  It was heart-melting.  

The tech, who also assists in CVS procedures, knew quite a bit and shared a lot of info.  She took one measurement -- the baby measured 10w1d which again is fine by my ovulation date -- and then measured the heartbeat (for my first time).  It was a whopping 174 bpm!  Perfectly healthy and normal for that age.  More and more relief.  As I write this I think it's just so crazy that that little heart is inside me right now, surrounded by that little wiggle-wormy kid.  Sometimes it seems like the only time I'm pregnant is when I can see that screen, but of course, that baby's in there and doing all those things 24-7!  I am really looking forward to being able to feel the baby.  I know I should be careful what I wish for though, getting kicked in the ribs probably doesn't feel too good....

The tech explained how the CVS works, that because of my uterus position, they would not be doing a trans-abdominal CVS (which I didn't even know was an option).  So it will be going in the way I thought they would, through the cervix.  She said the catheter can make 2 turns, and my placenta is posterior, so depending on the position of my cervix, it may or may not be possible.  We couldn't ever clearly see the cervix thanks to my intestinal gunk.

She sent me off with a goofy photo of the baby, and I moved on to my genetics counselor. The photo is goofy because you can only see part of it thanks to the gunk, and I think the baby was moving at the time, and we caught an odd angle of it. I think we're looking over its left shoulder.  It kind of looks like the Joker from Batman.  You can see its upper and lower jaws.  Later in the day when I showed the photo to my husband he said it looked like the baby was smiling, but I explained that we were seeing the jaws, not the lips.  The good news is that we can see the nasal bone.  Seeing the nasal bone is a really good sign, the counselor said, because it diminishes the chances of Down Syndrome -- DS babies don't develop nasal bones fully or sometimes at all.  So though it's kind of a creepy photo, it's gives some good information.  I wish I had thought to videotape the baby wiggling around. It's much cuter than that photo!


Really all you can see is the head of the baby facing 10 o'clock.  You can see what looks like a smile, but are actually the upper and lower jaws, and the sharp nose. 




I then spoke with my genetics counselor, who explained what happens in a CVS and the things that can go wrong with results.  There's less than a 1/300 chance of miscarriage from this, and it completely depends on the skill of the doctor.  My doctor is supposedly very good, and before coming to Kaiser he taught other doctors how to do CVS at UCSF, so that's encouraging.  I think the risk is more like 1/600 that it could end up badly because of the test.  Assuming that won't be a problem, I then have a 98% chance that everything will go as planned in the test -- there are issues that can happen where they get my tissue instead of the placenta's, for example.  Just a 2% chance of a bad reading.  They will give me an image of the baby's chromosomes afterwards if I want, which sounds good to me!  Again, I'm staying positive, and assuming all will be fine.  

So I will head to San Francisico for a fun weekend before I go to the appointment on Monday morning.  I'm looking forward to seeing some friends and getting out of town for a bit, even though it's just an hour and a half away.  I again am having to figure out how to handle hanging out with friends with me not drinking -- how to not get found out?  We always have wine when we're together....  Also, my stomach is on the verge of showing.  I think it's more poop than uterus, but you never know.  And none of the laxative-like remedies are working for me, so it will most likely remain a bit bulgey.  Here's my tummy:

My friends will tell you that bump is nothing new.  I've always had some flab there.

That is all for now!