Every year, March 21st is observed as World Down Syndrome Day by the World Health Organisation (WHO) to raise awareness about the condition and encourage early intervention programmes. Down syndrome is a genetic disorder that is caused when abnormal cell division leads to the generation of extra genetic material from a chromosome. Normally, a person has 46 chromosomes, but people with Down syndrome have an extra copy of chromosome 21. This additional chromosome leads to several developmental and cognitive challenges among patients with Down syndrome.
Also known as Trisomy 21, this disorder is one of the most prevalent genetic birth diseases among children, affecting around 1 in every 830 live births. In India, every year, approximately 1.3 lakh children are born with this condition. Despite these worrying statistics, due to a lack of information and discussion, many children continue to suffer from this condition.
What are the factors that can cause Down syndrome?
While it is known that extra chromosome 21 can lead to Down syndrome, the exact cause of this chromosomal abnormality remains unknown. A woman’s age during childbirth is also another factor that often increases the risk of having a child with Down syndrome. Women who are older than 35 years of age are found to be more susceptible to having a child with Down syndrome when compared with women of a lower age group.
How many types of Down syndrome are there?
Three types of Down syndrome have been detected to date. These include:
Trisomy 21: This is a type of down syndrome that has three separate copies of chromosome 21 instead of two.
Translocation Down syndrome: This type of down syndrome occurs when an extra chromosome 21 attaches to a different chromosome.
Mosaic Down syndrome: It is a mixture of some cells with a normal set of two chromosomes and some cells with three copies of chromosome 21.
What are the different types of tests that are available to detect Down syndrome?
With the advancements in technology and laboratory testing, Down syndrome can be detected in up to 90% of cases. Women in the early stages of their pregnancy can undergo the following tests to detect if their child is being born with Down syndrome:
Foetal ultrasound to look for clinical signs in the foetus and blood markers to detect the risk of carrying a child with Trisomy 21 Genetic testing is one of the most effective ways to predict a child’s future and understand if they are suffering from any other congenital disorder. Women who have had several abortions can undergo genetic testing to monitor their child’s development regularly.
Screening Tests: Couples who are looking to get married or want to conceive can undergo screening tests to check if their child will be at risk of any inherited or genetic ailment.
What are the precautions that parents can take after conception?
Once a baby is born, parents must undergo certain evaluations to help the child have a better health outcome.