Down Syndrome Awareness Day

By CEL Staff

This week’s Sunday conversation features Toya Barnes and Christian Hill from the Chattahoochee Valley Down Syndrome Association (CVSDA) to discuss Down Syndrome Awareness Day, recognized on March 21. 

The choice of March 21 symbolizes the three types of Down syndrome: The most common form, trisomy 21, accounts for 95 percent of cases and occurs when someone has three copies of chromosome 21 instead of two. The other types of Down syndrome are translocation and mosaic.

Trisomy 21 involves an additional chromosome being located on the 21st pair. With translocation, an additional chromosome is attached to a different chromosome. Mosaic Down syndrome is often considered the rarest form because it is inherited through the bloodline. While individuals with Down syndrome may share physical features like a flat nose and almond-shaped eyes, the genetic variances manifest uniquely. 

Diagnosis of Down syndrome can occur at birth or through prenatal testing between 10 and 13 weeks of pregnancy with the NIPT test. Barnes and Hill encourage parents who are expecting a child with Down syndrome to join local support groups so they do not feel like they are alone.

Organizations like the CVDSA offer a sense of community for parents and caregivers. If you’re seeking support or wish to join the community, apply online for free at CVDSA.org.

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