Trisomy 21 (Down Syndrome)

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Description

As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading

As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease. Trisomy 21 changes the way in which a fetus’s brain develops, which accounts for many intellectual disabilities. The United States Centers for Disease Control and Prevention, or CDC, estimates Trisomy 21 occurs approximately once in every 700 human births, averaging about 6,000 live Down syndrome births every year in the US. Down syndrome is a lifelong developmental condition, but there are many resources available to those living with Down syndrome and their families.

Date Created
2022-08-01

John Langdon Down (1828–1896)

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Description

John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is

John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes. In 1866, Down published one of the first accounts to accurately describe people with Down Syndrome, or what he called “Mongolism,” and identify it as a distinct condition. Additionally, Down advocated for people with mental disabilities at a time when their families commonly abandoned them and medical professionals did not prioritize them. He improved the quality of care for people in the centers he worked in and increased their educational opportunities so they would be better prepared to live a normal life. Down brought increased attention to Down Syndrome, leading to the future discovery of the chromosomal anomaly that causes the disorder, and promoting a higher standard of care for people with mental disabilities.

Date Created
2021-08-12

Jérôme Lejeune (1926−1994)

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Description

Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome.

Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome. Down Syndrome is a condition present in an individual since birth and is characterized by physical and developmental anomalies such as small ears, a short neck, heart defects, and short height as children and adults. Throughout his career, Lejeune also discovered that other developmental disorders, such as cri du chat (cry of the cat) syndrome, were caused by chromosomal abnormalities. Lejeune also used his influence in the scientific community to promote pro-life beliefs, and often met with Pope John Paul II to discuss ethical dilemmas such as abortion of fetuses after detection of chromosomal abnormalities. Lejeune was one of the first researchers to link chromosomal abnormalities to developmental disorders with his discovery of Trisomy 21, leading future researchers to identify more links between the two.

Date Created
2021-08-19

Fitzgerald Thesis Presentation (Spring 2022)

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Description

Statistics show that the termination rates for fetuses with Down syndrome are substantially higher compared to the general population. Perhaps pregnant women are led to believe that this is the best option for them. The information that leads them to

Statistics show that the termination rates for fetuses with Down syndrome are substantially higher compared to the general population. Perhaps pregnant women are led to believe that this is the best option for them. The information that leads them to this conclusion could be one of the leading factors for the high termination rates. In an attempt to understand the reasons behind the high termination rates the following question must be addressed: “What information is available to pregnant women that may influence their decision to terminate or not terminate fetuses with Trisomy 21?” In order to answer this question I completed a comprehensive literature review of the information available to pregnant women in the United States after they find out there fetus has Trisomy 21. The results showed that many sources publish information that is straightforward, factual, and attempts to make sure that pregnant women are fully informed on the reality of life with a child with Down syndrome. However, there are also many sources that publish information that is biased and attempts to influence a woman’s decision of whether to keep or abort her fetus with Trisomy 21. The results from this study suggest that the message conveyed from a given article relies heavily on who is doing the writing, the type of article it is, and were it is published. This provides women with a confusing array of different ideas, as opposed to offering them objective facts and consistent information. When a pregnant woman is told that her fetus is positive for the Trisomy 21 disorder and will be born with Down syndrome, it can be a very scary and emotional time. Women in this situation deserve easy access the correct information in order to help them make an informed decision based on their own choice and not the opinion of someone else.

Date Created
2022-05
Agent

Fitzgerald Final Project (Spring 2022)

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Description

Statistics show that the termination rates for fetuses with Down syndrome are substantially higher compared to the general population. Perhaps pregnant women are led to believe that this is the best option for them. The information that leads them to

Statistics show that the termination rates for fetuses with Down syndrome are substantially higher compared to the general population. Perhaps pregnant women are led to believe that this is the best option for them. The information that leads them to this conclusion could be one of the leading factors for the high termination rates. In an attempt to understand the reasons behind the high termination rates the following question must be addressed: “What information is available to pregnant women that may influence their decision to terminate or not terminate fetuses with Trisomy 21?” In order to answer this question I completed a comprehensive literature review of the information available to pregnant women in the United States after they find out there fetus has Trisomy 21. The results showed that many sources publish information that is straightforward, factual, and attempts to make sure that pregnant women are fully informed on the reality of life with a child with Down syndrome. However, there are also many sources that publish information that is biased and attempts to influence a woman’s decision of whether to keep or abort her fetus with Trisomy 21. The results from this study suggest that the message conveyed from a given article relies heavily on who is doing the writing, the type of article it is, and were it is published. This provides women with a confusing array of different ideas, as opposed to offering them objective facts and consistent information. When a pregnant woman is told that her fetus is positive for the Trisomy 21 disorder and will be born with Down syndrome, it can be a very scary and emotional time. Women in this situation deserve easy access the correct information in order to help them make an informed decision based on their own choice and not the opinion of someone else.

Date Created
2022-05
Agent

A Review of the Information Available to Pregnant Women That may Influence Their Decision to Terminate or not Terminate Fetuses With Trisomy 21

Description
Statistics show that the termination rates for fetuses with Down syndrome are substantially higher compared to the general population. Perhaps pregnant women are led to believe that this is the best option for them. The information that leads them to

Statistics show that the termination rates for fetuses with Down syndrome are substantially higher compared to the general population. Perhaps pregnant women are led to believe that this is the best option for them. The information that leads them to this conclusion could be one of the leading factors for the high termination rates. In an attempt to understand the reasons behind the high termination rates the following question must be addressed: “What information is available to pregnant women that may influence their decision to terminate or not terminate fetuses with Trisomy 21?” In order to answer this question I completed a comprehensive literature review of the information available to pregnant women in the United States after they find out there fetus has Trisomy 21. The results showed that many sources publish information that is straightforward, factual, and attempts to make sure that pregnant women are fully informed on the reality of life with a child with Down syndrome. However, there are also many sources that publish information that is biased and attempts to influence a woman’s decision of whether to keep or abort her fetus with Trisomy 21. The results from this study suggest that the message conveyed from a given article relies heavily on who is doing the writing, the type of article it is, and were it is published. This provides women with a confusing array of different ideas, as opposed to offering them objective facts and consistent information. When a pregnant woman is told that her fetus is positive for the Trisomy 21 disorder and will be born with Down syndrome, it can be a very scary and emotional time. Women in this situation deserve easy access the correct information in order to help them make an informed decision based on their own choice and not the opinion of someone else.
Date Created
2022-05
Agent