Down Syndrome Diagnosis

^{Reviewed by: My Child Without Limits Advisory Committee September 2009}

A newborn baby with Down syndrome often shows unique physical signs. The doctor usually recognizes these features immediately after the baby is born. These may include a flattened face, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep crease on the palm of the hand.

However, a child with Down syndrome may not have all of these features.

Once the baby is born, a blood test can confirm whether the baby has Down syndrome. 

This test is called a chromosomal karyotype. To get the results from this test, cells from the baby’s blood needs to “grow” for about two weeks. The cells are then examined under a microscope to see if there is extra material from chromosome 21.

Next:

What Are People With Down Syndrome Able To Do?

Download the Introduction to Down Syndrome.