Living With Down 's Syndrome

Jane O'Brien: Chromosomes are tiny, threadlike structures inside most cells of every organism, or living thing. Chromosomes carry information about the organism in units called genes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.Down Syndrome is an autosomal genetic disorder.. Down Syndrome Is caused by having an extra copy of Chromosome 21, so instead of 2 copies, you have 3. This is an autosomal disorder and is not sex-linked. This usually occurs due to abnormal cell division when they egg and the sperm meet during fertilization.

Down syndrome occurs by nondisjunction. Nondisjunction is the failure of a pair of chromosomes to separate during egg, or sperm, formation. The embryo ends up with three copies of chromosome 21 when the defective chromosome’s egg joins with a normal sperm

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

mother could have a Down Syndrome baby even though there was never any sign of

“When families get a diagnosis prenatally, they use the words ‘shock’, ‘sadness’, ‘disbelief’”, says Sarah Cullen of the Massachusetts Down Syndrome Congress. “ You feel like like the rug is pulled out from under you. You feel very heavy. You feel very, very alone” (Szabo 1). When parents receive the results of their prenatal test, many do not know what to do. They can feel very overwhelmed, because their baby is unhealthy and there may be nothing that they can do about it. Often the doctor does not know what to do either, because there may not be a cure for the disease.This kind of news alone is agonizing for parents. Mothers should not have genetic testing done to see if their baby has diseases because it causes unnecessary anxiety for the parents, tests may not always be accurate, and it is unethical.

Babies can be screened for Down syndrome as part of prenatal care; however, these screenings don’t tell you if the baby has Down syndrome, it can only tell you how likely the baby is to have it. This first test is called the first trimester combined test. This includes blood tests and an ultrasound on the baby. Based on these two tests and age a doctor can try to estimate the likelihood of a baby having Down syndrome. If results come back positive and people think their kids has a great chance of having this genetic disorder they can try to have a few more tests done. Once the baby is born they first see if the baby has an visual symptoms. Appearance is a big key to knowing if a baby has Down syndrome right away when it is born. However, at times babies can have appearances that resemble Down syndrome even if they don’t have it so a test is done called a chromosomal karyotype which analyzes the child’s chromosomes. Once diagnosed a child should start treatment as soon as possible if they want to see more positive effects of the treatments. Usually doctors can refer patients to special early intervention programs in the area. These programs specialize in helping the diagnosed kids with developing different skills like: social, language and motor skills. Most kids will end up having a team of experts on their side. This would be a

Various test can be done in order to see if the foetus has Down Syndrome. The most common tests to look for Down Syndrome.

Trisomy Down Syndrome happens when there are three 21 chromosomes as opposed to the normal two. This is a result of either the sperm or egg failing to separate causing a replication in every cell of the body. Another type called Robertsonian Translocation happens when part of chromosome 21 is translocated to another chromosome to the reproductive cells to the parent or early development of the child. This type accounts for about 4% of all cases of down syndrome. Mosaic is a form of down syndrome when the extra chromosome 21 is found only in some of the body's cells. “Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome.”

Down Syndrome is a genetic disorder that occurs when a persons 46 chromosomes abnormally divides into 47 chromosomes, creating a full or partial 3rd copy of the chromosome 21.

Down syndrome is a disease in which chromosome 21 has extra genetic material delaying the way a child develops mentally and physically.

Down Syndrome can be diagnosed when the person is an infant. According to The National Human Genome Research Institute if one is suspected of this condition chromosome analysis is performed on the skin and blood to look for the extra chromosome 21. Most of the time the disease can be diagnosed during the pregnancy through certain types of tests (National Human Gnome Research Institute).

Two of the main methods, or tests, used to tell whether a child has Down syndrome or not are a screening test and a diagnostic test. The screening test doesn’t give a for sure answer, but an educated guess, which is typically accurate. These screenings typically include a blood test, to measure the quantity of various substances in the mother’s blood, and an ultrasound, to be able to see if there are any noticeable physical features which are typical of a child with Down syndrome. The diagnostic test has two different procedures. There’s the chorionic villus sampling, CVS, and amniocentesis. Both of these tests are always accurate and can even distinguish which type of Down syndrome the child has if it has the disorder (Diagnosis). With these tests, there is a small chance of a miscarriage, but that typically isn’t an issue. If the tests aren’t taken into place before the child is born, the doctor can usually diagnose the child right after being born by relating its physical symptoms to the ones of Down syndrome. Once diagnosed with Down syndrome, the next step is treatment

First of all, it is important to define Down syndrome. Traditionally, people are born with 46 chromosomes, 23 from the mother and 23 from the father. Down syndrome usually occurs when a person is born with an extra copy of chromosome 21. There are, however, other instances where Down syndrome can take place. For example, a person with DS might have it where, “...an extra broken piece of a twenty-first chromosome is attached to another chromosome (called translocation pattern)” (Berk, 2014, p. 40), a parent can be a carrier of the disorder, or a mosaic pattern could occur. A mosaic pattern is where a problem occurs in mitosis, resulting in some cells with defective chromosomes (Berk, 2014). How, then, can a mother know if she has a child with DS?

When such a condition is detected, or highly suspected, what then? According to Farrell et al., (2014) physicians are most concerned with the ethical issue of pregnancy termination. In the case of Down Syndrome, this is with good cause. A systemic review by Natoli, Ackerman, McDermott and Edwards (2012) found a weighted mean termination rate following a prenatal diagnosis of Down syndrome was 67%, with a range of 61% - 93%. The evidence they presented suggested that termination rates varied according to maternal age, race, and gestational age. (These variances alone open another ethical can of worms). But one can see, after only brief examination of this one genetic screen, why physicians, and society in general, should be concerned. There is no concensus regarding whether or not pregnancy termination is ethical in and of itself, let alone when one decides to terminate due to knowledge of specific genetic markers or

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.