Diagnosis
Prenatal testing.
In many countries, pregnant women are offered tests to see if their unborn baby has a genetic condition, like Down syndrome. This is called prenatal testing.
The pregnant woman can choose whether or not to take the tests. In many countries, health professionals have been trained to help women make the choice that feels right for them.
Ultrasound scans can show signs that a baby might have Down syndrome.
Blood tests can also show if a baby is more likely to have Down syndrome.
These tests cannot say for certain that a baby has Down syndrome. These tests can only give information about the likelihood of the baby having Down syndrome.
To confirm that a baby has Down syndrome, professionals can test a sample of tissue or fluid from the baby.
They will look at the chromosomes in the cells to say for certain if the baby has Down syndrome.
There is more information about chromosomes below.
Newborn testing.
When a baby is born, professionals will look for physical features that are common in people with Down syndrome. They may make an initial diagnosis of Down syndrome.
But these features can also be found in babies without Down syndrome. So, a test is needed to confirm the diagnosis.
To confirm that a baby has Down syndrome, professionals can test a sample of blood from the baby.
They will look at the chromosomes in the baby’s blood cells to say for certain if the baby has Down syndrome.
Chromosomes.
All living things have chromosomes.
Chromosomes act like an instruction manual that defines how our bodies look and how they work. For example, they say what colour our eyes will be or how tall we will grow.
Most people have 23 pairs of chromosomes – 46 in total.
People with Down syndrome have an extra chromosome added onto the 21st pair – 47 in total.
If there is an extra chromosome 21 in all or some cells, the baby will be diagnosed with Down syndrome.
Explaining the diagnosis.
In some countries health professionals have been trained to deliver and explain a Down syndrome diagnosis. It is important to give factual and unbiased information.
Receiving a diagnosis can be overwhelming and families often feel a range of emotions during that time.
Contact us for support.
If you are delivering or receiving a diagnosis of Down syndrome, please contact our network member in your country.
Our members promise to always give honest and unbiased information.
Our members can share information about life for people with Down syndrome in your country, and direct the family to support and services.
If the family would like to connect with other families who have a child with Down syndrome, our members can facilitate this.