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An echogenic intracardiac focus is a small bright spot seen within the region of the heart seen during an ultrasound examination. Most commonly found in the left ventricle of the developing heart, it is important to understand that it doesn’t affect the functioning of the heart per se. It is a relatively frequent occurrence on prenatal ultrasounds.
It is usually a small deposit of calcium which has found its way into the region and is fairly common for ultrasounds conducted in the second and third trimester of pregnancy. One in five babies seem to have at least one echogenic intracardiac focus. Some may even have more than one such focus and they may be distributed in different areas of the infant heart.
They are never attached to the walls of the chambers of the heart. They are usually found in the ventricles within the papillary muscles or chordae tendinae. To be considered echogenic intracardiac foci, they must be of the same echogenicity as fetal bone and must move along with the fetal heart motion. They are seen in 4% of all pregnancies, but there is a higher incidence among Asians. Echogenic intracardiac focus occurrence on ultrasound is nearly 13% of ultrasounds among Asians.
In most cases, infants with intracardiac foci will be born healthy with no issues. However, in some cases things could take a turn for the worse as it may be associated with the chance of a chromosome change in the infant. An echogenic intracardiac focus is linked to a suspected cardiac malformation or may lead to a congenital heart defect at birth.
However, the most worrisome effect that it may have is that it signals the presence of Down’s syndrome. The genetic disability is associated with specific physical features as well as limited cognitive ability. It is caused by a disorder in chromosome 21 and can result in a number of developmental issues for the child. It is irreversible and needs to be managed from birth.
If the ultrasound has revealed an echogenic intracardiac focus and the doctor suspects a chromosomal mutation, amniocentesis may be requested. This is a test of the amniotic fluid present in the sac in which the fetus is carried. Results of this testing can take about two weeks to come and are highly accurate in predicting several possible birth defects.
A detailed ultrasound is performed to look for signs of chromosomal mutations in the developing fetus. If all parts of the fetus are not clearly visible, the radiologist will schedule another ultrasound to be performed after a week. Should any abnormality be seen in the ultrasound, the doctor will suggest performing a test of the amniotic fluid.
An amniocentesis is a procedure in which a thin needle is inserted into the sac of the pregnant woman to collect some of the amniotic fluid within. This fluid is tested for skin cells shed by the fetus during development. These skin cells are studied for chromosomal abnormalities. Should there be a genetic mutation present, these cells will reveal it. A genetic counsellor may be brought in at this stage to explain the possible outcomes for the child.
Once the amniocentesis is performed, the doctor can accurately tell whether the fetus could have a problem. In case of a serious genetic mutation, which could affect the future development of the child, the parents will be informed so as to give them the chance to prepare for the delivery. The final decision is always left with the parents.
Often the amniocentesis is negative. In this case the doctor will continue to monitor the fetus via regular ultrasounds. The echogenic intracardiac focus will also be studied and recorded. Fetal development will be observed for any possible abnormality. As long as all the examinations are normal, there is no reason why a child with an echogenic intracardiac focus may not grow up to be perfectly normal.
The child will continue to be observed after birth for the first couple of years to check for signs of possible illnesses or genetic conditions. The increased risk of Down syndrome in such children means that the primary health care provider of the child must look for possible signs and symptoms to look out for. The doctor will also monitor the heart for any cardiac condition.
As long as no symptoms show up by the age of two years, the child will be given a clean bill of health. A record of the condition will be maintained, but there is nothing to prevent the child from growing up normally and leading a healthy life.