Down Syndrome – Understanding Trisomy 21

Understanding Down Syndrome_trisomy 21

20 October has been earmarked as National Down Syndrome Day—The core focus of the day is to create awareness around Trisomy 21 (down syndrome) and to communicate facts about the condition.

While people are aware of the genetic disorder, many are not fully aware of what causes down syndrome, which has led to various misconceptions surrounding it.

Looking at the condition, Down Syndrome South Africa explains, down syndrome is a genetic disorder, which is caused by an abnormality in the genetic material.

 Elaborating further, the organisation explains, “An excess of genetic material causes down syndrome. The genetic material is present in every human body cell and is arranged in tiny structures called chromosomes. They are arranged in pairs, and humans have 46 chromosomes or 23 pairs of chromosomes. People with Down syndrome have an extra chromosome 21. “

It is essential to highlight, that while there is a certain degree of developmental delay in intellect, the number of common features present in an individual, however, is not an indication of the level of developmental delay or the potential of the person. In reality, people with down syndrome can flourish and prosper if they are exposed to a loving and caring family environment.

Who is at risk of having a down syndrome baby?

Down Syndrome South Africa highlights the risk of having a baby with Trisomy 21, have been noted in older mothers. 

As an example, a 20-year-old woman has a risk of about 1 in 1700, while a 40-years-old woman increases her risk to about 1 in 100.

While the risk of having a child with down syndrome is less for young mothers, the reality is still present.

Thus, several tests can be done to determine if a woman’s unborn child has the condition.

These tests include a maternal blood screening test, ultrasound, amniocentesis, chorionic villus sampling and cordocentesis.

These tests are done through varying stages of the pregnancy. It is imperative to highlight; there are different complications associated with each test.

Therefore, any test must only be performed after genetic counselling has been obtained, when all the facts, risks and consequences have been thoroughly discussed.

Despite there being no cure, parents need to remember children with down syndrome have outstanding abilities and qualities and are so unique they even have an extra chromosome. 

It is up to the caregivers and parents to ensure these qualities develop, allowing their child to reach their full potential.

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