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