Last Updated (Monday, 20 July 2009 12:44)

How is Down Syndrome Diagnosed ?

A newborn baby with Down syndrome often has physical features described above that will most likely be recognised in the delivery suite. However, a child with Down syndrome may not possess all of these features; some of these features can even be found in the general population.

To confirm the diagnosis, the doctor will request a blood test called a chromosomal karyotype. This involves "growing" the cells from the baby's blood for about two weeks, followed by a microscopic visualization of the chromosomes to determine if extra material from chromosome 21 is present.