Congenital Heart Defect (Updated)
I had my 20-week anatomy scan today. ...It didn't go as planned. We were told they were having a hard time getting images of his heart, and were sent to the perinatology clinic within the network to do some further looking. They conducted another ultrasound, again spending a lot of time focusing on the heart and conducting a fetal echocardiogram via ultrasound. We were then told by the perinatologist that she had never seen a heart like this before... At the most simple, it's in the wrong side of his chest. More complexly, it does not have the correct structure. To the best of her (and the ultrasound techs') ability, they had tried to match the structures they found with what is typical; instead of two ventricles, he has only one large one, and only one large vessel leading out of this joined chamber, instead of two (one on each side). They performed an amnio, and will be conducting thorough genetic testing with the sample to see if there's an underlying genetic problem that they can isolate as the cause. While we're waiting on these results, we will be meeting with a fetal cardiologist, to see if this is a malformation that he has ever encountered before and could be addressed with cardiac surgery.
...I don't really know what to do in the meantime. How do I stay calm and sane while waiting to learn if my son will be viable, compatible with life after major cardiac surgery, or... if he's not?
...
We have received our microarray results and been assessed by a local pediatric cardiologist who specializes in fetal echocardiograms, and now we at least have some diagnoses to work from. Thankfully, the DNA analysis came back normal - this is not the "tip of the iceberg" of some larger, systemic problem. Since seeing the cardiologist, we've gotten diagnoses of Double Inlet Left Ventricle, Dextrocardia, and Coarctation of the Aorta for our unborn little boy. The prognosis is better than originally presented by the perinatologist. He's probably going to make it to term, though he will require a series of surgeries to modify his circulatory system to accommodate the malformation in his heart. This is still extremely nerve wracking for my husband and I as expecting first-time parents, but at least we sort of know what we're in for at this point.
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