GIRL! Which we kinda knew anyhow in our guts, but super happy to know for real!
Now, unfortunately we did not get a "baby is perfect" call - however, if she wasn't 'perfect' this was one of the better genetic problems to have. The Harmony test showed she is XXX (or trisomy X). Please don't let your heart sink too far before you read on - this isn't the worst thing by any means. My first question was "oh no is this Turner's??" and she said "Oh no no no - this is WAY less severe." I took a deep breath. Phew.
The nutshell is XXX is usually undiagnosed and no one is ever the wiser. However, being that we are diagnosed is good news - in my afternoon of reading, I learned that girls whose parents know this early are able to take some measure to help them conquer the symptoms. Primarily those symptoms are some delays in speech and learning but usually still within normal ranges. They tend to grow fast until puberty (long legs) and then even out. They take a little longer to potty train, and can be shy - but still are chatty (poor J, that makes two of us in the house). There is a long list of possibilities, but the vast majority of the 'concerning' traits are in girls who were not diagnosed and struggle with frustration of learning issues or behavioral struggles without additional help. That won't be us. Since we know, we'll be all over it if she needs any sort of professional help.
We are meeting with a genetic counselor on Monday to get more information, however I will not risk her life doing an Amnio or CVS because this is not a pregnancy we would ever consider terminating. The counselor told me they can take a sample of her cord blood at birth for formal karyotyping and diagnosis, which is a no-risk way of dealing with it. The test is 99.9% accurate, so we are proceeding as if it is accurate. I found this great (albeit long) brochure on a website the counselor recommended - if you are interested you can read about it here. Some of it reads a little scary, but nothing terrified me.
I won't lie. We clearly wanted the 'perfect' report - but we didn't get it - and with that, we are both ok with what we learned today and plan to love the holy s.hit out of our baby girl. We will tell close family about the XXX, but not broadcast it, and of course will ensure her teachers know and look for signs of "help needed" and get her that help ASAP as she grows up. We feel totally equipped emotionally and financially to handle this and in a way, feel lucky she landed with us as we have the means and intention of doing everything possible to make her life great!
Thanks for reading our big update. Please don't feel bad - I mean, I know I feel a little bad and I'd feel bad reading this about any of you - but know that we are just so happy it's not something unmanageable, or severe, in terms of leading a normal life. We're just relieved overall, and still praying that this little girl is born full-term and safe!
Lil'mamaz was born on Aug 21, 2014! She's PERFECT!
It's been a long road to here... Me (43) and J (45) - same sex couple. And we don't feel 40+! June'12 - First RE Visit Sept. '12 - Tubes removed Dec. '12 - Donor Egg/Donor Sperm IVF Cycle - 4 good embies! Dec. '12 - Fresh transfer, BFP! EDD 8/29/13 Mar. '13 - Missed m/c at 16w1d, baby boy stopped growing at 15w4d Loss due to umbilical cord clot...baby was perfect. Jul '13 - FET#1 - c/p Sept. '13 - FET#2 - BFN Dec.' 2, 2013 - FET#3 with our last chance embie - BFP!!! Dec' 26, 2013 - hb!! EDD 8/20/14 with a baby girl! Little S was born on 8/21/14 - 8lb, 14 oz and 20 inches long. We live in Seattle and used SRM for our donor egg IVF cycle