Tuesday, October 18, 2011

12w2d: CVS test results

Waited all day Monday for the preliminary results. Nada. Called up the perinatal clinic: they hadn't gotten them yet.

Tuesday: waited all day for the call. 4:30 rolls around. I'm in the middle of a presentation at work and my phone vibrates - I hand the flip chart pen over to my colleague and dash out of the room.

First thing out of the genetic counselor's mouth: "It's good news! Tests for Trisomy 13, 18, and 21 are all normal. Gender chromosomes are normal, too. Do you want to know what they are?"

Me: "Yes!"

Her: "You have 2 sets of X chromosomes and no Y chromosomes. You are having a girl. Congratulations!"

Me: "Thank you soooooooo much."

Trisomy 13 is a congenital disorder characterized by profound mental retardation, cardiac problems, and multiple deformities. In Trisomy 18 (Edwards syndrome), there is an extra chromosome with the 18th pair.
Trisomy 18 affects all systems of the body and causes distinct facial features. Trisomy 18 occurs in 1 in 3,000 live births. Unfortunately, most babies with Trisomy 18 die before birth, so the actual incidence of the disorder may be higher. Trisomy 18 affects individuals of all ethnic backgrounds.

Trisomy 21:The presence of an extra number 21 chromosome causes the distinctive facial features, physical characteristics and the cognitive impairments seen in people with Down syndrome. While people with Down syndrome have some characteristics in common, it is very important to remember that each person with Down syndrome is an individual with strengths and weaknesses. Never make assumptions about a person’s abilities based on their diagnosis.
 
So, interweb friends, Mr. Jem and I are having a chromosomally healthy girl

You know before Mr. Jem. I won't tell him until I get home from work. Off I go!

~Jem

22 comments:

Rain Child said...

OMG!!! Congrats! What wonderful news!

Bella said...

Yay! That is such great news! Phew!

Two Kayaks said...

Wonderful news!! Congratulations! <3

Heather said...

Wonderful news! So excited for you two!

Gurlee said...

Fabulous news! Congratulations!

Mrs. Lemon said...

Woo hoo! Great news!!!!

Poppet said...

YEAH!

Start saving now: girls are much more expensive than boys! :-) :-) :-) :-) :-) :-)

Like, like like.

TeeJay said...

Congrats! So exciting! You must be pretty relieved that everything is turning out so well...I know I am. I'm very happy for you and I'm going to move you into my PG after IF folder now...ok??

b said...

yayyyyyyyyyyyyyyyy! congratulations! it must be so relieving to hear that you are having a healthy baby girl -- a plus to having to go through that test and then the agonising wait.

such happy news :)

Circus Princess said...

Super-duper-awesome news, congratulations!!

Marissa said...

Coongrats on a HEALTHY baby girl!!!! So excited!

Lulu said...

Hooray! So happy for you. Hugs all around!

Rebecca said...

Congratulations!!!! That's awesome news!!!

St Elsewhere said...

Happy Happy news! Get ready for pink, Jem!

:-)

Jill said...

Great news, congrats on your daughter!

eggsinarow said...

Amazing! Congrats!

lowfatlady said...

Yea, congrats!

linda said...

So glad to hear the results are perfect and that you're having a girl! :))

mekate said...

YAY!!!!

~Jess said...

congrats on a little girl! So glad that all looks good with her :-)

Heather said...

A little girl--how exciting!

(Here from ICLW)

Whitbit said...

Congratulations!!!!