What is Down’s Syndrome

Down’s syndrome is defined as a disease that comes about because of a genetic abnormality that negatively affects the mental capabilities and physical features of an affected person. Individuals with this condition quite often experience varying degrees of medical and physical issues. Some people with the disease are able to successfully lead moderately regular lives while others need persistent medical care. It affects 1 in 800 newborns and is said to be more common with older mothers. The disease cannot be prevented, however it can be discovered in utero, before the baby is born. There is still much controversy in relation to the ramifications of genetic testing for Down’ssyndrome. It has been observed that an estimated 90-93% of pregnancies with a Down’s babies were aborted once this was identified through various forms of genetic testing methods.

The outlook for children with Down’s syndrome has significantly improved in recent years. The regular life span for an individual with Down’s syndrome was 25 years old in the 1980’s it has now risen to 49 years of age in present times. People with the disease will usually be infertile especially males who are only partially fertile in extremely rare instances. Most children with Down’s syndrome will also experience noticeably reduced cognitive abilities. However, with needed medical intervention, family support and vocational training the child with down syndrome can learn to overcome, to some extent, his or her disabilities.

What Causes Down’s Syndrome

The disease as mentioned before is caused by a genetic irregularity. A normal person will have 46 chromosomes, 23 of which will be inherited from either parent. In an individual with Down’s syndrome he or she will have an overall number of 47 chromosomes or essentially 1 more chromosome than is expected. This chromosomal abnormality manifests because of an extra copy of the 21st chromosome. The effect of the extra copy will vary among affected people.

The condition cannot be prevented and is said to be a randomly occurring event. However women over the age of 35 are at an increased risk of conceiving a child with Down syndrome. The risk for different age groups are listed below:

o Women who are 25 years of age will typically have a 1in 1,250 chance of having a Down’s baby.

o Women who are 30 years of age will normally have. 1 in 1000 chance of having a Down’s baby.

o Women who are 35 years of age will normally have 1in 400 chance of having a Down’s baby.

o Women who are 40 years of age will typically have 1 in 100 chance of having a Down’s baby.

o Women who are 45 years of age will normally have. 1 in 30 chance of having a Down’s baby.

The odds of conceiving a child with Down’s Syndrome may also be associated with a familial genetic irregularity. A person who has a balanced translocation will not show any signs of down syndrome but will have an elveated risk of conceiving a child with translocation Down syndrome. The estimated risk is 1 in 5 for the female carrier and 1 in 50 for a male carrier. In some cases where there is no unattached copy of chromosome 21 the carrier’s offspring will all have Down’s Syndrome. The affected parent is therefore said to be a translocation carrier. This sort of Down’s syndrome is said to occur in 2-3% of all Down’s syndrome cases.