Down syndrome

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Down syndrome

Down Syndrome is a chromosomal disorder that is estimated to occur in approximately 1 in every 1,100 babies born in Australia. When a child is conceived, it receives genetic material from its biological parents which is transferred in 46 chromosomes (23 from each parent, which includes the sex chromosomes, XX for a female and XY for a male). In most cases of Down Syndrome, an extra copy of chromosome 21 is transferred. The result is that all the cells in the child’s body contain 47 chromosomes instead of the usual 46. This changes how the brain and body develop.

The effects of Down Syndrome vary from child to child. It can cause mild-to-moderate intellectual disability, while associated physical conditions include heart defects, gastrointestinal problems and hearing and visual difficulties. Advances in the medical treatment of these conditions mean that people with Down Syndrome are living longer, healthier lives than previously, and the average life expectancy of a person with Down Syndrome in Australia is now 60 years. Some people with the condition are able to live and work independently while others may need assistance with daily activities.

The chance of having a child with Down Syndrome increases with maternal age. Screening for genetic conditions such as Down Syndrome is available from 10 weeks gestation. Screening is not compulsory, and decisions about whether or not to have these tests, or what to do if Down Syndrome is diagnosed, are for the parents to make, with the support of their obstetrician and genetic counsellors. For further information on genetic screening, we have produced a short video in the Patient Education section of our website at:  https://www.womensogs.com.au/patient-education/

The WOGS obstetricians and midwives are here to support families, whatever path they choose to take.

A recent ABC documentary, ‘The Upside’, explores how it feels to face a decision about having a baby with Down Syndrome. The program examines people’s fears and also celebrates the joys of living with the condition.

One of our gorgeous WOGS babies, Greta, was born in mid October with Down Syndrome. In their birth notice, Greta’s family wrote: “We are deeply in love with her. Our obstetrician, family and friends have all been amazingly supportive of our pregnancy with Greta and positive about this beautiful little baby entering the world”.

A much-loved little sister to Alex, Greta is now home with mum and dad and growing bigger and stronger every day. Congratulations to Kylie and Ed!