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Inherited Disorders and Birth Defects

Down Syndrome



My best friend is 40 years old. She already has a healthy 3 year old boy. She is now expecting her second child (16 weeks pregnant). All her blood testing gave normal results but her recent sonogram showed three choroid plexus cysts in the baby`s brains and echogenic intracardiac focus. Bow increased is her risk of having a baby with Down syndrome by the combinatio of these two markers? Thank you very much, a friend from Greece


This question has been forwarded by Children's Health:

Ultrasound markers are not abnormalities but are only indicators that there might be a problem in the pregnancy. The white spot on the muscle of the heart is called a echogenic intracardiac focus and the choroid plexus cysts are fluid areas in the choroid plexus of the brain where cerebral spinal fluid is made. Both of these markers can be benign (not mean anything), but also might increase the chance that there is a problem with the baby such as a chromosome problem - Down syndrome being the most common chromosome problem.

The chance that the baby has Down syndrome is based on several factors including the mom's age, the blood test results and what markers are seen on ultrasound. It is important to know what markers are not seen as well. All of these factors are put into a complicated formula to figure out what the risk for the baby is to have Down syndrome. Based on age alone, there is about a 1 in a 100 chance that a woman at age 40 will have a baby with Down syndrome. So this figure may increase a bit because of the two markers. However, you need to also include all of the things that were not seen to get a more accurate risk figure.

If your friend has not already done so, I would recommend that she talk to her doctor about this or to a genetic counselor if possible. They have a great deal of expertise in this area.

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University