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    What is Down Syndrome & Causes of Down Syndrome

    Defining Down Syndrome

    Down syndrome is a condition that originates from of a genetic irregularity that affects the mental abilities and physical features of an affected person. People with this condition will retain variable degrees of medical and physical difficulties. Some individuals with the disease are capable of leading relatively normal lives while others need consistent medical treatment. It is observed in 1 in 800 newborns and is considered more likely with increasing maternal age. The disease cannot be prevented, however, it can be recognized in the uterus, well before the baby is born. There is still a bit of controversy in relation to the assumptions of genetic testing for Down syndrome. It has been found that an estimated 90-93% of pregnant women who realize they are carrying a child with Down Syndrome will have the pregnancy terminated. There are currently many available methods of genetic testing that can be used to diagnose this condition.


    The prognosis for children with Down’s syndrome has largely improved over the years. The average life span of a person living with Down syndrome was 25 years in the 1980′s it has now increased to 49 years of age in recent times. Persons with the condition will usually have significantly decreased levels of fertility especially males who are typically infertile with only 3 known cases of a male with Down syndrome having the ability to reproduce. Children with Down syndrome will also exhibit greatly lessened cognitive abilities. However, with progressive medical treatment, family support and vocational training the individual with down syndrome may possibly overcome some of his or her limitations.


    What Causes Down Syndrome

    The disease as previously suggested is triggered by a genetic irregularity. An unaffected person will maintain 46 chromosomes, 23 of which will be inherited from either parent. When a person has Down syndrome, he or she will have an extra chromosome which means he or she will have 47 chromosomes overall. This chromosomal irregularity materializes as a result of an extra copy of the 21st chromosome. The effect of the extra copy will vary among individuals afflicted with the disease.

    The disease cannot be prevented and is regarded as an arbitrary manifestation However, women who are age 35 and older are at an adequately increased risk of conceiving a child with Down syndrome. The risks for different age groups are displayed below:

    • Women who are 25 years of age will have a 1 in 1,250 probability of having a baby with Down Syndrome.
    • Women who are 30 years of age will have a 1 in 1000 probability of having a baby with Down Syndrome.
    • Women who are 35 years of age will have a 1 in 400 probability of having a baby with Down Syndrome.
    • Women who are 40 years of age will have a 1 in 100 probability of having a baby with Down Syndrome.
    • Women who are 45 years of age will have a 1 in 30 probability of having a baby with Down Syndrome.


    The possibility of having a child with Down’s Syndrome may also be attributed to a familial genetic abnormality. A person who has a balanced trans-location will not exhibit any signs of down syndrome but will have an elevated chance of having a child with trans-location Down syndrome. The estimated risk is 1 in 5 for the female carrier and 1 in 50 for a male carrier of the defective chromosome. In some cases where there is no unattached copy of chromosome 21 all the carrier’s children will be born with Down’s Syndrome. The affected parent is consequently labelled a trans-location carrier. This particular type of Down’s syndrome is thought to occur in 2-3% of all Down’s syndrome cases.

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