Down Syndrome

Down syndrome is the most prevalent cause of intellectual impairment

associated with a genetic anomaly. It affects both physical and cognitive
development and produces a characteristic phenotype, although affected
individuals vary considerably with respect to severity of specific
impairments. (Silverman)
In every human body, we have cells that contains nuclei where genetic
material is stored in the genes. Genes carry codes throughout the body that
are responsible for all inherited traits in a human and our genes are grouped
together to make chromosomes. The nucleus of each cell contains 23 pairs of
chromosomes. We inherit half of these from one parent and half from the
other. What makes Down syndrome occur is when an individual has a full or
partial extra copy of chromosome number 21.
There are three different types of Down syndrome; trisomy 21,
mosaicism, and translocation. Trisomy 21 is also known as nondisjunction.
Down syndrome is usually caused by an error in cell division called
nondisjunction which accounts for 95 percent of all Down syndrome cases.
(NDSS) Nondisjunction results in an embryo with three copies of chromosome
21 instead of the usual two. Prior to or at conception, a pair of
21st chromosomes in either the sperm or the egg fails to separate. As the
embryo develops, the extra chromosome is replicated in every cell of the
body. (NDSS) Mosaicism occurs when nondisjunction of chromosome 21

takes place in one, but not all of the initial cell divisions after
fertilization. When this occurs, there is a mixture of two types of cells, some
containing the usual 46 chromosomes and others containing 47. (NDSS)
Those cells with 47 chromosomes contain an extra chromosome
21. Mosaicism accounts for about one percent of all cases of Down
syndrome. Research has indicated that individuals with mosaic Down
syndrome may have fewer characteristics of Down syndrome than those with
other types of Down syndrome. (NDSS) However, broad generalizations are
not possible due to the wide range of abilities people with Down syndrome
possess. Lastly theres translocation which accounts for about four percent of
all cases of Down syndrome. In translocation, part of chromosome 21 breaks
off during cell division and attaches to another chromosome, typically
chromosome 14. While the total number of chromosomes in the cells remain
46, the presence of an extra part of chromosome 21 causes the
characteristics of Down syndrome. (NDSS)
Regardless of the type of Down syndrome a person might have, they
are all have an extra chromosome 21 present in all or some of their cells.
This extra chromosome alters the course of development and therefore leads
to characteristics associated with Down syndrome. Although there are clear
strides in medical research, the cause of nondisjunction is still unknown, but
researchers do know that the frequency of having a child with Down
syndrome increases with a womens age. With that being said, there is no
definitive scientific research that indicates that Down syndrome is caused by

environmental factors or the parents' activities before or during

pregnancy. We know that this trait could come from either the mother or the
father, but only five percent of the cases have been traced back to the
father. (NDSS)
Children with Down syndrome are predisposed to clonal disorders
affecting the megakaryocytic lineage; specifically, transient
myeloproliferative disorder (TMD), also known as transient leukemia (TL) and
acute megakaryoblastic leukemia (AMKL). (Hook, et. al) TMD is reported to
occur in 10-20 percent of newborns with Down syndrome. Children with
Down syndrome have a 500-fold increased risk of developing AMKL
compared to the general pediatric population. (Hook, et. al)
Down syndrome AMKL nearly always presents itself during a narrow
temporal window before 4 years of age. (Ahmed, et. al) In some, but not all
cases of Down syndrome AMKL, there is documented evidence of previous
TMD, and the megakaryoblasts in AMKL and TMD are morphologically,
immunophenotypically, and ultrastructurally similar. (Ahmed, et. al) Down
syndrome AMKL has an unusually good prognosis and Down syndrome AMKL
has characteristic karyotypic abnormalities. With taking all of that
information together, these observations suggest both a biologic relationship
between TMD and AMKL and a distinct pathogenetic basis for these
conditions. (Ahmed, et. al)

Unfortunately, it is very likely to have a baby with Down syndrome

considering that Down syndrome is the most common genetic condition. One
in every 691 babies in the the United States is born with Down syndrome,
approximately 400,000 Americans have Down syndrome, and about 6,000
babies with Down syndrome are born in the United States each year. (NDSS)
Down syndrome occurs in people of all races and economic levels, though
older women have an increased chance of having a child with Down
syndrome. A 35 year old woman has about a one in 350 chance of conceiving
a child with Down syndrome, and this chance increases gradually to 1 in 100
by age 40. (NDSS) At age 45 the incidence becomes approximately 1 in
30. (NDSS) Once a women has a child with Down syndrome, the women was
a 1 in 100 chance of having a second child with Down syndrome until the age
of 40 (NDSS). The risk of recurrence is about three percent if the father is the
carrier of the gene and 10-15 percent if the mother is the carrier. (NDSS)
Genetic counseling is the best way to locate the origin of the gene, whether
it is from the mother or father.
There are a couple ways of telling whether or not your child has or will
have Down syndrome before and after birth. Some prenatal tests are
screening tests and a diagnostic test. Prenatal screens estimate the chance
of the fetus having Down syndrome. Most screening tests involve a blood
test and an ultrasound (sonogram). The blood tests (or serum screening
tests) measure quantities of various substances in the blood of the mother.
Along with the blood test, researchers use a womens age to estimate her

chance of having a child with Down syndrome. These blood tests are often
performed in conjunction with a detailed sonogram to check for "markers"
(characteristics that some researchers feel may have a significant
association with Down syndrome). New advanced prenatal screens are now
able to detect chromosomal material from the fetus that is circulating in the
maternal blood. The diagnostic procedures available for prenatal diagnosis of
Down syndrome are chorionic villus sampling (CVS) and amniocentesis
(NDSS). Most of these tests only provide a probability, but diagnostic tests
can provide a definitive diagnosis with almost 100 percent accuracy. (NDSS)
Amniocentesis is usually performed in the second trimester after 15 weeks of
gestation, and CVS is usually performed in the first trimester between 9 and
11 weeks. (NDSS) By selecting for amniocentesis, women with the median
maternal serum alphafetoprotein (AFP) levels at 14-20 weeks gestation, 21
percent of pregnancies with Down syndrome were identified. (Cuckle, et. al)
If amniocentesis were offered to all women aged 38 years or more and, in
addition, to younger women with serum AFP below specified maternal agedependent cutoff levels, 40 percent of pregnancies with Down syndrome
would be selected. (Cuckle, et. al)
There are also ways of knowing whether your child has Down
syndrome after birth. Down syndrome is usually determined at birth by
certain physical traits the child has such as low muscle tone, a single deep
crease across the palm of the hand, a slightly flattened facial profile, and an
upward slant to the eyes. These characteristics may also be present in

children without Down syndrome, therefore the best way to determine if your
child has Down syndrome at birth is to obtain a chromosomal analysis called
a karyotype in which doctors draw a blood sample to examine the baby's
cells. They use special tools to photograph the chromosomes and then group
them by size, number, and shape. By examining the karyotype, doctors can
diagnose Down syndrome. (NDSS) Since many couples are having babies
later in life, the percentage of children having Down syndrome is expected to
increase, therefore, genetic counseling for parents is becoming increasingly
important. (Skallerup, 2008) Still, many physicians are not fully informed
about advising their patients about the incidences of Down syndrome,
advancements in diagnosis, and the protocols for care and treatment of
babies born with Down syndrome. (Skallerup, 2008)

Due to medical advances in our society, we have more ways of

knowing before birth whether a child will have Down syndrome or not. We
also know that the older a women is, the more likely they are to have a child
with Down syndrome. We know a lot more about the disorder today and what
we can do to prevent it. Awareness of the sonographic findings associated
with Down syndrome should result in improved detection of this disorder.
This will allow our society to be better prepare for the disorder or try to
prevent it with continued medical advances in the future.

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