Tetralogy of Fallot, possible DiGeorge
Looking for anyone who has ever had a baby diagnosed with ToF. I could really use someone to talk to, recommendations for a support group, etc.
Here's our story:
Abnormal bloodwork on 1st trimester screening. Ultrasound measurements were fine. Put us at a 1:15 risk for DS, 1:2 for trisomy 18. We opted for the Harmony test which came back
< 1:10,000 risk for all 3 of the major trisomies. Fantastic!
Had our anatomy ultrasound last week (2/16) at a hosp better equipped to give us a more thorough u/s...just in case. Got the heartbreaking news that they saw something wrong with the baby's heart (suspected Tetralogy of Fallot) and a single umbilical artery. Opted for an amnio as they fear there may be another less common chromosomal disorder causing the heart defect and SUA. They scheduled us for an echo with a pediatric cardiologist which we had yesterday. Diagnosis of Tetralogy of Fallot was confirmed and they did not find anything else abnormal on the u/s...nervous system, GI, growth, everything else was exactly as it should be. We are still awaiting the amnio results as they said the ToF coupled with SUA puts us at higher risk for DiGeorge Syndrome. The good news is ToF is treatable and they said surgery has a 98% success rate, and the surgery would be done in Boston which is the top hospital for treating congenital heart defects...but that doesn't mean I'm any less terrified for my child. I also don't know a heck of a lot about DiGeorge Syndrome and what that could mean for quality of life.
So long story short, if anyone has anything to share about Tetralogy of Fallot or DiGeorge Syndrome, please share! I can only get so much from researching on the Internet, but any feel first hand experience you guys could provide would be reassuring.
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