Good morning, ladies!!!
First off, a HUGE thank you to everyone for your kind and supportive comments, yesterday. As I said before, this message board is such a godsend.
Second, I want to apologize to any of you that felt offended by my comments regarding my possible diagnosis of a DS kiddo. I was speaking from my heart...my emotional heart and not my logical brain. I know that a couple of you have actually experience loss from a trisomy diagnosis and my heat goes out to you. While I have experienced multiple losses, they have never been beyond the 1st trimester and I can't imagine your pain. Just know I said a few extra prayers last night.
That being said, I would like to explain myself, just in case any of you were offended by my comments.
I am not just a 40+ year old pregnant mom, I've a 40+ year old pregnant mom who has been on the road of infertility (or actually subfertility) for the past 11-years. I have been pregnant 8 times and have only 2 living children. I can hang with the ectopic mommies, the blighted ovum mommies, the traditional miscarriage (lose a baby with a heartbeat) mommies, the IVF mommies and maybe, just maybe, now the DS mommies. I apologize if it has come across that this last cross is not one I want to bear; I just was feeling like my shoulders could not carry one more cross. If that makes any sense.
Yesterday, I spent a good 30 minutes with the pastor of our parish, pouring out my heart...not just the possible DS diagnosis, but my years of loss and anguish. Father Lou did not judge; rather he just reminded me that Jews and Catholics (he has a hilarious sense of humor!) have seemed to be able to corner the market on guilt and God, and that God knew the details of this pregnancy before the conception even occurred. Father Lou reminded me that all that God creates is good; that God doesn't "punish" us like that; and IF this is a DS baby, it is indeed the face of God and is all good. He recommended that I steel myself (be prepared) for the possible diagnosis/delivery of a DS baby, but otherwise ENJOY this pregnancy and life growing within me as the miracle for what it is.
When I left church yesterday afternoon, I felt such a sense of calm and peace wash over me.
Finally, I wanted to share what we learned at the peri appt. yesterday morning.
Not much! LOL
Dr. R was incredibly nice and very upfront and honest with us. He teased us about being past the "magical" age of 35 and was so very calming. He explained right from the get go, that at 14w6d, he really wasn't going to be able to see much in terms of soft-tissue markers and that follow-up u/s at 18 or 22 weeks would be much more conclusive. That being said, only amnio would truly be able to give us the answers we were seeking.
What I do know is this:
Baby K has 2 eyes, a nose, and a mouth.
Baby K has 2 kidneys and a bladder.
Baby K's long bones (femur and humurus/sp?) are exactly the length they should be.
Baby K has an abdomen and 4 extremities including feet and hands.
Baby K has fetal cardiac activity and 2 holes in his/her heart, but was normal for this stage of development.
Baby K's neck fold was still normal at this stage of development.
Baby K was too tiny to see if stomach has 1 bubble or 2.
Baby K's feet were too tiny to measure distance between big toe and 2nd toe.
Baby K's heart was too tiny to check for any other malformations.
After the sono, Dr. R. said that he really couldn't alter my odds statistically, maybe move them from 1:17 to 1:25. No big deal.
When I asked about my blood work and what it was specifically that triggered the elevated risk, he said it was my PAPP-A level which is low. (He's really not too concerned about hCG levels as they vary so widely from woman to woman and even pregnancy to pregnancy.)
The threshold or cut-off for a normal (albeit, low) level of PAPP-A is .40. Mine measured .38. Dr. R. went on to say that there is a lot of overlap with normal/abnormal hormone ranges, and that if I were 20 instead of 40, my odds for DS would be more like 1:300. It's really my age here that is throwing off my blood work. What they do know is, my PAPP-A level is more indicative of a chromosomal defect than a normal chromosome pregnancy, but is not a diagnosis.
In addition, low PAPP-A levels have also been positively correlated with the following conditions; not necessarily even attached to a chromosome defect. They include (after 24 weeks):
IUGR (intrauterine growth restriction)
The last one, is a biggie for me. Late last summer, my nephew via my sister (full-blood) was diagnosed with a congenital heart defect that went undiagnosed in utero. His pediatric cardiologist couldn't believe that he had survived (17 months) with an AV Canal defect. Eli underwent open-heart surgery last Labor Day and is now doing well, but is very small for age.
Due to our possible DS diagnosis and now a family history of congenital heart defect, they will be monitoring baby's heart and cardiac activity closely. My brother and I are now considered "at-risk" for having children with congenital heart defects. Not a high risk, as Eli is the only one in our family, but still an increased risk.
At this time, we are opting not to do amnio. Why? B/c frankly, I have bad luck! Seriously. I would be the 1:500 woman whose amniotic sac tore or infection developed from the procedure. Amnio is not going to change the outcome; only tell me conclusively that baby has chromosome 21 in triplicate. Instead, I'm just going to prepare myself in the event that we do have a DS kiddo and (research local support groups; be prepared to contact our local infant/toddler services group; and know my rights as a parent when it comes time for public education (I sort of have an in on that as I am former elementary classroom teacher.) Otherwise I have decided to think positive and ENJOY the rest of this pregnancy taking each appt. and week as they come.
If you're still reading at this point, THANK YOU! I know I was long-winded, but just had so much on my mind.
Blessings to you all,
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