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Wednesday, October 31, 2012

MaterniT21

Its been a busy 2 weeks, but here are our updates so far:

On October 18th we drove to Iron Mountain to do some genetic testing (MaterniT21). The hospitals where we live don't offer anything like that and our Doctor recommended that we do genetic testing and thought this would be the best test for us. So we had to drive to meet with the specialist just for a blood draw (or so we thought). We we got there, they had us fill out paperwork and then said OK we are ready for the ultrasound now (what??? ultrasound........ not expecting this - nerves flood in - blood pressure shoots up - seriously could they not that said this before - I am a person that needs to prepare ;)). Anyway - as we prepared for my 4th Ultrasound (at only 13 weeks), they told us we could hear the baby's heartbeat today - very cool................. so we finally heard it - AND we have more pictures - that I will upload here. For this ultrasound the baby was very active, moving its arms and legs around, shooting its legs up above the head.

So what is MaterniT21 - here are some facts that I have:
  • The MaterniT21 PLUS test, developed and validated by Sequenom CMM, is a laboratory-developed test (LDT) that analyzes circulating cell-free DNA extracted from a maternal blood sample. The test detects an increased amount of chromosomal 21, 18, and 13 material.
  • Trisomy 21 is associated with Down Syndrome
  • Trisomy 18 is associated with Edwards Syndrome
  • Trisomy 13 is associated with Patau Syndrome
  • Accuracy rate is said to be 99%
The test involves a consultation with a genetic specialist, ultrasound and a blood draw. The blood draw is taken just like any other blood draw from the vein in the arm, and from that they look at my DNA and the baby DNA (yes they can now detect baby DNA in the mothers blood, how cool is that).Then we are told we have to wait about 6 days for the results. Hmmmm well we actually waited 13 days, and because I decided that I wasn't updating until we got the results back.............. its been a long 13 days, especially after the 6 days :(.
Anyway - we found out that the first vial of blood they took didn't have enough DNA so they were using the second vial to grow it in the lab. So that's why we had to wait so long. Fear not though, the results are in and they were NORMAL. Oh what a relief ................. there is more testing to come I think, I will find out at my next meeting with the doctor, but this is one hurdle down!. Did  I mention the test looks at baby's DNA, and detects X and Y chromosomes................ baby's gender anyone ;)

So that is the serious - now for some fun.................... one of the people I work with here made this diaper wreath and hung it on my door at work. The wreath has Tickle Me Elmo diapers and a Husky in the middle. Terry made it - its so awesome I love it :) I hope the picture does is justice - It is currently hanging on my office door until I take it home to go in the nursery!


We are now 15 weeks and 1 day............. time is going by so quickly.

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