Genetic disorder is a condition that is caused by an abnormality in an individual’s DNA.

One such
disorder is Down syndrome. According to Down’s Syndrome Association (2012), Down Syndrome is a
genetic condition that results in some level of learning disability and a particular range of physical
characteristics. The condition is caused by the presence of an extra copy of chromosome 21 in a baby’s
cell. Chromosome 21 is the smallest human autosome with 48 million nucleotides and depicts almost 1–
1.5% of the human genome. The length of 21q is 33.5 Mb and 21 p is 5–15 Mb. More than 400 genes are
estimated to be on chromosome 21. In a normal human body, the nucleus of each cell contains 23 pairs
of chromosomes – 23 are inherited from the mother and 23 from the father. This makes 46
chromosomes in all. In people with Down syndrome, all or some of the cell in their bodies contain 47
chromosomes, as there is an extra copy of chromosome 21. This additional genetic material result in a
range of physical and developmental characteristics associated with Down syndrome.

Down syndrome, like every other disease, has its own historical background. According to
Kazemi, et al. (2016), approximately 2500 years ago, Bernal and Briceno thought that certain sculptures
represented individuals with trisomy 21, making these potteries the first empirical indication for the
existence of the disease. Martinez-Frias identified the syndrome in 500 patients with Alzheimer’s
disease in which the facial features of trisomy 21 are clearly displayed. Esquirol wrote phenotypic
description of trisomy 21 in 1838. English physician, John Langdon Down explained the phenotype of
children with common features noticeable from other children with mental retardation. He referred
them “Mongoloids” because these children looked like people from Mongolia. This disease was named
“Down Syndrome” in honor of John Langdon Down, the doctor who first recognized the syndrome in
1866 but until the middle of the 20th century, the cause of DS remained unknown. A revolution finally
took place in 1956, when Joe Hin Tjio and Albert Levan described a set of experimental situations that
allowed them to precisely characterize the number of human chromosomes as 46. During the three
years of the publication of this revolutionary work, Jerome Lejeune in France and Patricia Jacobs in the
United States were able to identify an extra copy of chromosome 21 in karyotypes prepared from DS
patients. Then, in the 1959, researchers finally determined that presence of an additional copy of
chromosome 21 is the cause of Down syndrome.

Anyone can have a baby with Down syndrome. According to Down Syndrome Association (2012),
Down syndrome affects people of all races, religions and economic backgrounds in all countries around
the world. Although the chance of having a baby with Down syndrome increases with the mother’s age,
babies with the syndrome are born to mothers of all ages. About half of children with Down syndrome
are born to mothers under the age of 35. As yet, no one knows what causes the presence of the extra
chromosome 21. It can come from the mother or the father. There is no way of predicting whether a
person is more or less likely to make an egg or sperm with an extra chromosome. As far as we know,
nothing done before or during pregnancy causes the syndrome.

To diagnose Down syndrome, Amniocentesis is the most conventional invasive prenatal

diagnostic method accepted in the world. Amniocenteses are mostly performed to acquire amniotic
fluid for karyotyping from 15 weeks onwards. Amniocentesis performed before 15 weeks of pregnancy
is referred to as early amniocentesis. CVS is usually performed between 11 and 13 (13+6) weeks of
gestation and includes aspiration or biopsy of placental villi. Amniocentesis and CVS are quite reliable
but increase the risk of miscarriage up to 0.5 to 1% compared with the background risk (59-60).

Although all diseases falls into two sides, the first side are the diseases that can be cured, and
the other one are the diseases that cannot be cured presently. Down syndrome falls on the latter side.
According to Kazemi, et al. (2016), there is no known medical cure for Down syndrome. However,
children with DS would benefit from early medical support and developmental interventions initiation
during childhood. Children with DS may benefit from speech therapy, physical therapy and work-related
therapy. They may receive special education and assistance in school. Life expectancy for people with DS
has improved noticeably in recent decades. Nowadays, cardiac surgery, vaccinations, antibiotics, thyroid
hormones, leukemia therapies, and anticonvulsive drugs have significantly improved the quality of life of
individuals with DS. Actually, life expectancy that was hardly 30 years in the 1960s is now increasing
more than 60 years of age .

Summary

There are different ways in diagnosing Down syndrome and Amniocentesis is one of them.
Amniocentesis is the most traditional intrusive prenatal diagnostic method that is widely accepted in the
world. It is a decisive method but it has its own side effects wherein the mother’s danger of miscarriage
increases for up to 0.5 to 1% compared with the normal delivery risk.

Up to date, there are no known cures for Down syndrome. But despite of this, children with
Down syndrome can improve themselves early through early medical support and developmental
interventions like speech therapy, physical therapy, and work-related therapy. They may enroll in a
school for special cases. The longevity of a person with Down syndrome has increased lately. There are
different surgeries, vaccinations, and therapies that are now available for people with Down syndrome
and it significantly enhanced their condition in life. Due to this, the life expectancy of people with Down
syndrome increased to 60 years from the 1960s 30 years.