What is Down syndrome?

Down syndrome is a life-long condition that causes a range of delays in learning and development. It occurs when your baby’s cells contain an extra chromosome (number 21). Down syndrome just happens, and it is not anyone’s fault.

Characteristics

They may have some characteristics in common with other children who have the syndrome including:

  • low muscle tone and flexible joints 
  • excess skin on the back of the neck 
  • almond shaped eyes 
  • small ears 
  • a single crease across the palm of the hands 
  • a gap between the big toe and the second toe 
  • a flatter nasal bone.

It’s important to remember a child with Down syndrome also looks like their whānau – their looks are not defined by the condition. 

Screening

If you're pregnant, it is completely up to you whether you want to test to check for Down syndrome or other genetic conditions. The type of test you will have depends on how far along you are in your pregnancy: 

  • if you're less than 14 weeks pregnant, it will be a blood test from you and a scan of your baby 
  • if you're 14–20 weeks pregnant, it will be a blood test only.

You should get the results in about 10 days from your doctor or midwife. 

Receiving a Down syndrome diagnosis

You may go through a range of emotions after your baby is diagnosed with Down syndrome – and this is normal.

It can be helpful to seek support from friends and whānau, and to learn about organisations or community groups for people with Down syndrome. Early interventions and good support networks can help you and your whānau support your child to learn and develop to their best potential.  

Watch this video series from KidsHealth about a family and their son Ryan. 

(KidsHealth)

Early days (0 to five years)

New Zealand Down Syndrome Association

Visit Website

Support and empower people with Down syndrome.

Need free support or advice?

Call PlunketLine 24/7 on 0800 933 922