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Inherited Disorders and Birth Defects

Markers for Downs

11/16/2007

Question:

I am 30 years old and I am 18 weeks pregnant with my second son. A recent ultrasound found two markers for Down`s Syndrome. A white spot on the muscle of the heart and one kidney was borderline enlarged with fluid. My AFP results are negative however I don`t have the actually numbers yet.

Are my makers considered soft makers? Also, what are my chances of having this same issue with future children?

Answer:

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 fluid in the kidney is called pyelectasis. Both of these markers can be benign (not mean anything), are somewhat common but might increase the chance that there is a problem with the baby. They are called "soft markers" because they usually are not highly associated with problems such as Down syndrome.

If you have not already done so, I would recommend that you talk to a genetic counselor about these findings as they have a great deal of expertise in this area. You can locate a genetics center near you at the National Society of Genetic Counselors' Resource Center at the website below.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

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