Down’s Syndrome is a genetic condition caused by either a full or partial extra chromosome 21. A complete extra chromosome 21 is called trisomy 21 because there are then three copies. We usually have two copies of each chromosome, one from each parent. And sometimes a piece of chromosome 21 attaches to a different chromosome and then the baby ends up with two complete chromosome 21’s and an extra piece.
This extra DNA is present from birth and can cause some of the problems we often see associated with Down’s Syndrome. Some people that have Down’s Syndrome have a heart condition, hearing and learning problems, thyroid issues and low muscle tone. But this can differ from person to person, and some may need more help than others. Everyone has challenges, but sometimes a genetic condition can create a few more challenges for an affected person.
Down’s Syndrome occurs in about 1 in every 700 babies across all countries and population groups. The number may differ slightly depending on the areas’ healthcare system. We know that there is a link between a woman’s age (35<) and her chance of having a baby with Down’s Syndrome, but at the same time, most children with Down’s Syndrome are born to younger mothers because of a higher fertility rate.
There are prenatal screening and testing options available to couples who are at an increased chance of having a child with Down’s Syndrome. In South African public healthcare, pregnant women over 40 years old or pregnant women that have an ultrasound that suggests Down’s Syndrome can have prenatal genetic tests done to look for that extra chromosome 21.
Then there are options presented to the couple, and they can make the decision that is best for them and their situation. Down’s Syndrome is a life-long condition, and there is no cure, but there are treatments to help the affected person be the best they can be. Look out for my next post about an inspiring young man who challenges the stereotypes of Down’s Syndrome and disabilities.
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