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I want to share details about what we went through to help reassure anyone else who goes through the same. I hope you don't, because the stress is unimaginable, but everything can be okay even when the doctors give you reason to worry.
So about a week and a half ago, I had my ultrasound. We were so excited! Then the doc came in and said he found three things he didn't like -- echogenic focus on the heart, echogenic bowel, and something funky with the cord insertion. Possibilities:
Echogenic focus on the heart:
Could be normal (when seen by itself, it usually is)
Could be a sign of chromosomal abnormality
Echogenic bowel:
Could be normal (less common than the heart one)
Could be a sign of chromosomal abnormality
Could be from toxoplasmosis or cytomegalovirus
Could be from cystic fibrosis
Could be from intestinal blockage
Cord insertion:
Could be normal
Could be from a heart problem
So, we basically freaked out. I'm 29 years old and had opted out of early testing, like NT or blood screening. I didn't think I needed it. But now I was here facing multiple signs of significant problems.
First we had the quad screen done, and after 5 agonizing days, got a 1:25,000 result for Down Syndrome and no increased risk for Trisomy 18. This kept me at ease for awhile until I read about the false negatives with quad screening -- then I went crazy again.
Today I got MaterniT21 results showing normal chromosomes in the baby. It's not 100%, but at over 99% accuracy it's as good as amnio. So, the baby does not have fatal Trisomy 13 or 18 and does not have Down Syndrome.
We also got word that I did not come back positive for cytomegalovirus or toxoplasmosis, which is good because I have risk factors for each. My daughter goes to school one day a week (CMV risk) and we have a cat and I garden (toxo risks).
I still have to have a repeat ultrasound on Thursday to see if anything went away, and then a fetal echo on Monday to check out the heart. The doctor was not concerned with the heart based on the level 2 ultrasound, but it makes sense to confirm. After that, the last remaining concern is bowel blockage, which can be corrected with surgery if it happens.
Oh, and cystic fibrosis - neither DH nor I is a carrier, so that ruled that out.
Phew. That was the worst week and a half of my life.
Phew!! I am SO glad to hear things are ok! I honestly cannot even imagine the worry that you must have gone through, but I am glad the tests came back normal. It was also really sweet of you to explain to others that might go through something similar.
And now on to the fun stuff to celebrate! TEAM BLUE GO YOU!!!
What a hell week for you and your family. I am so glad things are pointing to all being normal. I would tell you not to stress about Thursday too much, but I know that will be impossible. Don't go MIA...still around for the support here!
I'm sorry you had to go through all that worry, but I am glad everything turned out okay. Yay for your little boy! Now rest up and relax, you deserve it after your scare!!
Yikes! Glad all that's over with and congrats on the boy!!
__________________
~ Ginger
For you created my inmost being; you knit me together in my mother's womb...I praise you because I am fearfully and wonderfully made...My frame was not hidden from you when I was made in the secret place, when I was woven together...Your eyes saw my unformed body; all the days ordained for me were written in your book before one of them came to be. Psalm 139: 13-16
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05.24.2011
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