What is Down syndrome?

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Down syndrome is a genetic condition affecting more than 13,000 Australians. It is the most common chromosome disorder and intellectual disability.

Key points

  • Down syndrome is the most common chromosome disorder
  • Diagnosis of Down syndrome can occur during pregnancy or at birth
  • People with Down syndrome can lead fulfilling lives and contribute much to their community

Each of the cells in our bodies contain 46 chromosomes but people with Down syndrome have 47 in each cell. The extra chromosome 21 develops at conception and can be tested before and confirmed after birth via a blood test. It is unknown why the extra chromosome is created in the body and what causes it.

There is no cure for Down syndrome, but many people living with Down syndrome lead fulfilling lives within their communities.

People with Down syndrome have characteristic physical features and generally some level of intellectual disability.

Speaking clearly can be challenging (especially when coupled with hearing loss), but often speech and language therapy can help develop a person’s communication skills.

People with Down syndrome often also have a lowered general immunity, making them more likely to catch an illness or infection, particularly when young.

Many people with Down syndrome don’t have other health problems but some of the health conditions that can commonly occur include heart problems, and issues with vision and hearing.

Even with a healthy diet, both children and adults with Down syndrome are at higher risk of becoming overweight. This can be managed with plenty of fitness and outdoor activity.

With the right support network, early intervention supports and regular health checks, any person with Down syndrome can live their best life within their community.


As Down syndrome occurs at conception, there are some tests during pregnancy to find out whether your baby has the genetic condition. It’s important to know these tests don’t give a definitive answer but rather they tell you how likely it is that your baby has Down syndrome.

These tests include:

  • Non-invasive prenatal testing (NIPT): a small amount of blood is tested for parts of your baby’s DNA
  • First trimester combined screening test: a combination of a blood test and a measurement of the baby’s neck fold from your 12-week ultrasound

Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can give you an accurate answer as to whether your baby has Down syndrome, however, these tests have some risks. Speak to your doctor or midwife about diagnostic tests, your pregnancy and the risks involved.

After birth, your doctor will confirm if your child has Down syndrome based on a number of key physical characteristics and a blood test.

What now?

If your child has been diagnosed with Down syndrome, it’s time to speak to a paediatrician or your doctor to get the ball rolling on early intervention. They can answer any questions you have and provide you with a number of valuable resources and information.

You can also call helpful State and Territory-based Down syndrome organisations to ask questions and discuss how to best support your child.

Parent support groups or online forums are a great way to connect with people in similar situations and learn from their experiences.

Down syndrome organisations can also suggest support groups or forums in your local area.

It is important to remember that the love and support you give your child now will set them up for a bright and happy future.


If you met the eligibility requirements, you may be able to receive supports and services through the National Disability Insurance Scheme (NDIS).

The NDIS can help you and your child access supports and services such as early intervention and education support within your community.

These supports can help your child reach their full potential and help you as a family to best support your child.

Supports for people with Down syndrome can be ongoing and grow and change with your child.

For example, during school they may receive support to develop their communication skills through speech therapy, then when they reach high school they may receive support to explore further study or work opportunities.

When your child is ready to move out of the family home, they can receive support to learn how to do the shopping, cook healthy meals, manage their finances, clean the house and ultimately live independently.

Outside of the NDIS, a person with Down syndrome is also likely to use supports through the education system to learn in the classroom and the health system to manage any health conditions they have.

If your child or family experiences any discrimination due to a disability you can also get advocacy or legal support to address the discrimination.

Use the DisabilitySupportGuide.com.au search bar to find organisations in your local area that can offer supports and services for your family.

What else would you like to know about Down syndrome? Tell us in the comments below.

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