I am 22 weeks pregnant and was sent for a fetal echocardiogram because of the finding of single umbilical artery during level II ultrasound and prior child with HLHS.
I was told there is a possibility of "cleft mitral valve" found during this fetal echocardiogram. There were no other defects detected, so would this be considered "isolated cleft mitral valve?"
And if so, is this considered a AVSD? I ask this because during all my research it seems that AVSD are a very common finding in Down Syndrome. I am so nervous that this baby has Down Syndrome. There were no "soft" markers found during the level II and was told everything measured appropriately, although I know it is not a guarantee.
I declined the amnio at the 20 week and now after this "new" finding.... if I do have the amnio, I am too far along in my pregnancy to make any drastic decisions about terminating if the baby doees have Down's.
So, I guess my true question is... is it possible for a "normal" fetus to have this type of defect as well? Or is this a bright red flag that this child has Down's.
Thank you for ANY input you may have. I truly appreciate it as I have yet had contact with my OBGYN to go over these results and will hopefully have his input as well tomorrow.
I am sorry to heart about your family medical problems. Anyone in your situation would be nervous -- it is human nature.
Unfortuately I am an adult cardiologist and just don't know alot about congenital heart diseease, in fact, I have never seen a case of hypoplastic left heart syndrome (HLHS).
It is possible to have a isolated cleft mitral valve. You are also correct that a cleft mitral valve is associated with atrioventricular septal defect (partial AVSD includes only a primum atrial septial defect and complete AVSD includes a ASD and ventricular septal defect).
To answer your question directly, it IS possible to have a normal fetus with a cleft mitral valve and a partial or complete AVSD. It does not mean that they will have downs syndrome. I agree that you should see someone who specializes in this though, especially if you are not satisfied that your ob/gyn is answering your questions.
This is a very complicated situation and I wish you all the best, physical and emotional, for the remainder of your pregnancy.
I would check in your area for a regional medical center that has a Children's Hospital with a pediatric cardiology department as they will specialize in rare and congential heart defects that adult cardiologist do not see very often.
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