A spot on your baby’s heart is an abnormal variant. Variants are simply variations in how a baby develops. Normal variants are very common and nothing to worry. Abnormal variants may not mean anything but your sonographer will want to investigate closer.
If a spot shows up on your baby’s heart during an ultrasound it is likely to be an echogenic cardiac focus. On ultrasound, it looks like a bright spot in the muscle of one of the heart valves. It is not a heart defect and is very common. Some babies with this spot can grow up to be perfectly healthy but there is an increased risk that the fetus might have a have chromosomal abnormality such as Down syndrome.
If you are over 35 then it is more likely that this spot could be a sign of Down syndrome, however if you are under 35 and there are no other indications, then there is only a slight risk that the spot might mean your baby has DS. There are blood tests that you can take that will let you know how high the risk is that your baby may have Down syndrome, however they are not 100% accurate.
There are several other items that can be found during an ultrasound exam that some researchers have feel have significant association with Down syndrome. These findings may be seen in normal fetuses, but some obstetricians believe that their presence increases the risk of the fetus having Down syndrome or other chromosomal abnormality. These "markers" include echogenic bowel and dilation of the kidneys (pyelctasis). However bear in mind that perfectly healthy babies can also have these markers.
If you want to be sure you can have an amniocentesis test. This test will be able to determine if your baby will be born with Down syndrome. However, this test does slightly increase the risk of miscarriage so think carefully and get all the information before you decide to take it. If you have already had this test and it came back negative then you have nothing to worry about.
