Question:

I had an ultrasound yesterday, I`m 21w2d and they said that the baby had calcium deposits of the aorta of the heart. The Dr. also said that 20% of all babies are born with this, and that 50% of all babies born with Downs Syndrome have this. But he said that from the Triple Screen the baby has a 1 in 10,000 chance of having Downs Syndrome. The dr. didn`t give us anymore information about what caused the calcium deposits, if they would go away, what effects it would have on the baby later, or any other details. I don`t know if I did something to cause this to happen, or what. Any information you could give we would be very appreciated

Answer:

Calcifications in the heart or aorta (major blood vessel of the heart), or what is called echogenic intracardiac focus when seen on ultrasound, can be a normal finding, can be associated with Down syndrome or, in rare situations, could be associated with additional other problems. This is not an area of expertise for me, thus I do not know what causes these calcifications when they are isolated, that is, not associated with any other problems such as Down syndrome. The literature reports that in many cases where this is the only finding, there may be no affect on the heart. I would recommend that you speak to a geneticist or genetic counselor whose area of expertise is in prenatal diagnosis regarding this finding. They would be able to provide you with the most accurate information. These are important questions and it sounds like you would benefit from a more in depth discussion. You can ask your doctor for a referral or you can find a genetics center near you at the National Society of Genetic Counselors Resource Center website listed below. 

For more information:

National Society of Genetic Counselors Resource Center

Response by:

Anne Matthews, R.N., Ph.D. Director, Genetic Counseling and Family Studies Center for Human Genetics School of Medicine Case Western Reserve University