everything you need to know
What is Down Syndrome?
How is it Inherited?
What are the symptoms/features?
Features-Small head and ears
-Flat facial features
-Eyes that slant upward
-Oddly shaped ears
-Poor muscle tone
-Short attention span
-Slow learning capabilities
-Congenital heart defects
-Late tooth growth
Who Should Be Tested & How?
In the screening test, the doctor will take a blood test which will be testing for two proteins: Human Chorionic Gonadotrophin(hCG) & pregnancy associated plasma protein. They will also conduct a nuchal translucency(NT) scan, which is an ultrasound that measures the size of a fold behind the baby's neck.
In the diagnostic test, they will conduct an amniocentesis take a sample of the amniotic fluid surrounding the fetus. They will also do a chorionic villus sampling(CVS), in which cells are taken from the placenta and used to analyze the fetal chromosomes. the final test would be the cordocentesis, in which fetal blood is taken from the umbilical cord and examined for chromosomal defects.
We do not want this disorder to spread any longer, so if you discover that you will be having a child with down syndrome, you should not try to have another child.
There are four national down syndrome organizations in the U.S.
-National Down Syndrome Society: NDSS
The mission of NDSS is to be the national advocate for the value, acceptance, and inclusion of people with down syndrome
- Global Down Syndrome Foundation
"Dedicated to significantly improving the lives of people with down syndrome through research, medical care, education, and advocacy."
-National Down Syndrome Congress: NDSC
Formed in 1973 and works to ensure that people with down syndrome get equal rights and opportunity.
-Down Syndrome Affiliates In Action: DSAIA
national trade association made up of 70 affiliates, most of which are local down syndrome organizations from across the U.S.