Down syndrome

Evidence  

https://ranzcog.edu.au/wp-content/uploads/Prenatal-Screening-Chromosomal-Genetic-Conditions.pdf 

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists 

The most common chromosomal cause of intellectual disability in children and adults is Down syndrome. This condition occurs when a baby has three copies of chromosome 21 (trisomy 21), instead of the usual two copies. The chance of a woman having a baby with Down syndrome increases with her age. Because of its frequency in the population (about 1 in 800) and its effects on health and learning, prenatal screening for Down syndrome is made available to all Australian women. 

Education

1 in every 1,158 babies born in Australia will have Down syndrome. Down syndrome is the most common genetic cause of intellectual disability. In addition to some level of intellectual disability, people with Down syndrome will typically have some characteristic physical features, an increased risk of some health conditions (many of which are treatable) and some developmental delays. 

Down syndrome is also called ‘trisomy 21’ and happens when a child has 47 chromosomes (an extra chromosome 21) instead of the usual 46. Often, the change to a baby’s cells happens at conception. It is not known exactly why Down syndrome happens, but it is important to acknowledge it is nobody’s fault.  

Every person with Down syndrome is different and has different skills and needs for support. Most young people growing up with Down syndrome go to school, have a career and enjoy connecting with family and friends - just like everyone else. People with Down syndrome are capable of living full and happy lives as valued members of their communities. 

How is Down syndrome diagnosed prenatally? 

Screening for Down syndrome can be carried out before a baby is born. Screening tests are used to identify the likelihood of your baby having Down syndrome. They do not provide a definitive diagnosis.  

There are three screening tests used to identify chromosome conditions prenatally which are: 

• Combined First Trimester Screening  

• Non-invasive prenatal screening (NIPT/NIPS)  

• Second trimester serum screening

Where screening test results indicate a high or increased chance of the baby having a chromosome condition such as Down syndrome, diagnostic testing will be offered in order to confirm the result. The choice to undertake diagnostic testing is entirely up to you, you are under no obligation to do so. Your trusted healthcare provider can help guide you through the decision-making process. 

For more information on prenatal screening visit: https://www.miraclebabies.org.au/content/what-is-prenatal-diagnosis/gm4xyg 

Empowerment

When taking part in screening tests, you should consider several factors including the type of test, what is being tested, the performance and reliability of each test and even the pregnant person’s age. For this reason, it is important to ask about the specific performance of any screening test you are offered and to be aware that sometimes a test can suggest a “high chance” result when the baby does not have Down syndrome; or a “low chance” result when the baby does have Down syndrome. 

Consult your health care professional about the different types of prenatal testing and what to expect. You can find more information about testing for chromosome conditions in pregnancy and what choices you may wish to discuss with your maternity care provider here: https://yourchoice.mcri.edu.au/decision-aid 

What happens after diagnosis? 

If diagnostic testing confirms that the developing baby has Down syndrome, parents should be supported with accurate and balanced information as they decide whether to continue or to terminate their pregnancy. Even if the tests say your child does definitely have Down syndrome, they can’t tell you how the condition may impact health and developmental outcomes. 

This can be a very difficult and emotional time and it is important to take some time to carefully consider all the available information about Down syndrome and your options. 

It can be helpful to talk with other families who have a child with Down syndrome to learn more about their experiences. This can be arranged by contacting the Down Syndrome Association in your State. You may also want to get more information about other options that are available such as placing the baby for adoption after birth. 

There are also online support groups available where you can connect with other people with a prenatal diagnosis or high probability screening result and parents of young children with Down syndrome. 

Need questions answered 

The Down syndrome Federation (comprising Down syndrome Australia, and its State and Territory Members) provides support and information for expecting parents. The national 1300 number (1300 881 935) will connect you to your local state or territory Down syndrome organisation. Staff at the organisation can provide you with non-directive information and answer questions. They can also arrange for you to talk to a parent of a child with Down syndrome. 

Useful Links  

Special thanks to Down syndrome Australia for content sharing and providing support for families. 

Down syndrome Australia Federation 

https://www.downsyndrome.org.au/wp-content/uploads/2020/02/DSA_AGuideForExpectantParents_Resource.pdf  

Raising Children 

https://raisingchildren.net.au/disability/guide-to-disabilities/assessment-diagnosis/down-syndrome  

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists 

https://ranzcog.edu.au/wp-content/uploads/2022/06/Prenatal-Screening-for-Chromosomal-and-Genetic-Conditions.pdf 

Miracle Babies Foundation  

https://www.miraclebabies.org.au/content/what-is-prenatal-diagnosis/gm4xyg 

https://www.miraclebabies.org.au/content/down-syndrome/gkexpc 

Through the Unexpected – Prenatal Diagnosis  

https://throughtheunexpected.org.au/ 

Panda - Perinatal Mental Health  

https://panda.org.au/