Down syndrome is the most recognised of all genetic conditions, and occurs in around 1 in 1000 births worldwide each year. Named after Dr John Langdon Down, who was the first physician to identify the condition in 1862, Down syndrome occurs when an extra chromosome 21 is present in the DNA structure, and can occur in people of all cultures, social backgrounds and races.
Our genes carry information that determine what characteristics are inherited from our parents, such as the colour of your hair, how tall you are, and the colour of your eyes.
Genes are the basic units of heredity. They consist of DNA and are part of a larger structure called a chromosome. In each human cell, there are 23 pairs of chromosomes. In a person with Down syndrome, an error occurs at the cell division stage, soon after the child is conceived.
If the chromosomes do not split into equal haves, one of two things can happen; either the new cells acquire an extra chromosome (47 in total), or the cells are deficient in one chromosome (45 in total). In both cases, this results in a genetic condition.
Like most conditions, Down syndrome varies in its severity, which means people with Down syndrome are just as unique as anyone else. We all have differing looks, intellectual and physical abilities, personalities, and needs, and a person with Down syndrome is no different.
Historically, people with Down syndrome were treated inhumanely, placed in institutions where they were deprived of health care, education, and even basic human rights. Today, people with Down syndrome often lead a very typical life, and enjoy the same things as anyone else. They have a range of support needs that can be minimal, or more complex, depending on the age, health and severity of the condition.
March 21 is World Down Syndrome Day, celebrating and advocating for people with Down syndrome. The day is all about raising awareness, breaking down the stigmas, and sharing stories and experiences of living with the condition, or being a family member or carer of a person with Down syndrome.
Down syndrome can be identified as early as 10 weeks after conception. This can be done using Total DNA Services Prenatal Peace Non Invasive Screening Test. Using a standard blood draw, this test is 100% safe, and screens for 17 genetic conditions, in addition to Down syndrome.
Once our scientists have received your blood sample, they separate the maternal plasma from the rest of the blood. The maternal plasma is then analysed, and results that confirm Down syndrome will indicate a higher ratio of genetic material in relation to chromosome 21.
Results arrive in a quick timeframe, usually within 10-14 working days. Although highly accurate, this is a screening test, and should not replace a diagnostic test like an amniocentesis. If your doctor advises that you should undergo further testing, then it is important that you do so.
To celebrate and be an advocate on World Down Syndrome Day March 21, get together with your workmates, school groups, friends and family, and wear the world renowned symbol, crazy socks! Colourful, mismatched, long, short or sparkly, join in with a gold coin donation that can help to provide opportunities, education, and employment for people with Down syndrome.
Follow World Down Syndrome Day on Instagram, and post your pics using the hashtags #LotsOfSocks, #WDSD20 and #WorldDownSyndromeDay.