Have you ever heard someone talking about his or her birthmark, and were curious to know if you had one? Maybe you did have one or knew someone with one also, but was wondering to how they even got one. The proper way to refer to one of those marks on the human body is not a birthmark, it is actually a defect that someone was born with and is considered a birth defect. “Birth defects are structural or functional abnormalities present at birth that cause physical or mental disability. They are the leading cause of death for infants during the first year of life. (Cuhna, John F.)” About three percent of babies in the United States are born with a birth defect, ranging from minor marks on the body to major body defects also resulting in about twenty percent of infant deaths. (Cuhna, John F.) Throughout this paper what birth defects are, how you receive them, and the leading causes of birth defects will be major factors. Birth defects are caused by three factors; chromosomal abnormalities, single-gene defects, and multifactorial influences. During conception a fetus receives its genetic makeup, birth defects that come from genetic causes are usually brought about during fertilization. In order for the birth defect to occur these four procedures could have taken place: chromosomal abnormalities, large-scale duplication, deletions of chromosomal segments, or entire chromosomes. (Lobo, Ingrid, Ph.D., and Kira Zhaurova, M.S.) Single-gene defects majority of the time are inherited, unlike chromosomal abnormalities which is caused by genetics. Phenylketnouria (PKU), is a disease that is commonly known to be inherited. Single-gene defects can also be common within different racial and ethnic groups. Take sickle-cell anemia for instance, ... ... middle of paper ... ...14. . Cunha, John F., DO. FACOE. "Birth Defects: Learn About the Causes." MedicineNet. N.p., 15 Apr. 2014. Web. 09 May 2014. . "Data & Statistics." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 15 July 2013. Web. 09 May 2014. . Lobo, Ingrid, Ph.D., and Kira Zhaurova, M.S. "Birth Defects: Causes and Statistics." Nature.com. Nature Publishing Group, 2008. Web. 09 May 2014. . "Overview of Birth Defects." Children's Hospital of The King's Daughters Health System. Children's Hospital of The King's Daughter, 23 June 2013. Web. 09 May 2014. https://www.chkd.org/HealthLibrary/content.aspx?pageid=P02113
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
Peterson-Iyer, Karen. "Confronting a Fetal Abnormality." http://www.scu.edu. Santa Clara University, Jan. 2008. Web. 13 Mar. 2014. .
The birthmark is a compelling story of one man’s obsession with his scientific ability to produce perfection. Aylmer, a scientist, is married to a Georgiana who is a very beautiful woman. Not long after getting married Georgiana’s birthmark, which is in the shape of a tiny handprint on her check, really begins to bother Aylmer. He sees it as a flaw in an other wise perfect woman. Georgiana knows that her birthmark disgusts him and, having grown up not bother at all by it, begins to hate it herself. He asks if she has ever considered having it removed. This is not something she has considered since other people in her life, especially men, have always seen it as a “charm”. Aylmer being an amazing scientist almost sees himself as god and feels that he has the power to remove this imperfection. Georgiana, bothered by her husband’s reaction to her birthmark, agrees to let him try to rid her of it. She is taken to his laboratory and he immediately begins to experiment. After she finds Aylmer’s book of experiments, which all end in failure, she for the first time, has some doubt about how this will work and confronts him. He reassures her and begins to try a multitude of methods, with the help of his assistant Aminadab, which do not work. At one point, there are several experiments going on and he even refers to himself as a “sorcerer” (Hawthorne 232). Finally, he produces a potion, which she drinks, and the birthmark begins to disappear! Slowly though, even as the experiment is working, Georgiana is fading away. He finds that ultimately, the birthmark was connected to her very soul and in his trying to act god like he actually kills her. Really this short story just proves that science has its limits and no man should try to act like G...
A big problem that is becoming of lawsuits is Wrongful Birth Cases. Wrongful birth by legal definition is a term to describe medical malpractice. A claim that the child would not have been born if medical malpractice did not occur (Knudsen, 2011). The legal definition of medical malpractice is also known as medical negligence, this is a professional negligence by act or omission by a health care provider which the treatment provided falls below the accepted standards of practice in the medical community and causes injury or death to the patient (Dictionary.com). In most cases, this is medical error. There is now 28 states that recognized wrongful birth claims. There is also 12 states that prohibit wrongful birth claims, including, Idaho, Utah, South Dakota, Minnesota, Oklahoma, Arkansas, Missouri, Kentucky, Michigan, Pennsylvania, North Carolina, and Georgia (Knudsen, 2011). A question that is always looked at is, What is the value of life to a parent? Does every child that is not “normal” not deserve a chance to live?
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Random mutations- genes that control brain development .Maternal infections that affect the developing fetus. Fetal stroke, a disruption of blood supply to the developing brain Lack of oxygen to the brain (asphyxia) related to diffic...
The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.
When a mother finds out she is pregnant it is a wonderful experience. Most people are excited to see their first “picture” of their baby, the ultrasound. Even more exciting is getting an ultrasound to find out the sex of the baby. But ultrasounds are useful for more than just getting that first image of the fetus or finding out whether it is a boy or a girl. While it is something most parents dread finding out when pregnant, an ultrasound can also detect a birth defect. There are many different birth defects that can be detected by an ultrasound during pregnancy like Spina Bifida, Down syndrome, and abnormalities with the heart and lower urinary tract, and the importance of detecting them with an ultrasound is shown in the benefits of discovering the birth defect early, and the options it gives the parents after discovering the birth defect.
Race is often used as a predictor for a person’s likelihood to get a disease and the effectiveness of medical treatments. The prevalence of certain diseases is different among populations. There are now opportunities for scientists and physicians to tailor medication to specific groups based on specific genetic variants revealed by genetic tests. This new genomic information is being interpreted based on social labels such as ‘race’ and ‘ethnicity.’ Using race as a determinant of a person’s likelihood to get a disease and as a way to create ‘racialized drugs,’ that are designed for people of a certain race, has some benefits but can be potentially harmful. Some groups are more likely to develop certain diseases than others but a person’s risk for common diseases is determined by an unknown pattern of genetic variants, environmental factors, lifestyle characteristics and some random processes (Rotimi, 2004).
One in every thirty-three babies is born with a handicap (“Data & Statistics”). The test for birth defects can be done during pregnancy or after the infant is born (“Data and Statistics”). In 2004-2005, the CDC counted 21 diseases as major birth defects (“Data and Statistics”). The list includes: “Central nervous system defects, Eye defects, Cardiovascular defects, Orofacial defects, Gastrointestinal defects, Musculoskeletal defects, and Chromosomal anomalies” (“Data and Statistics”). 20% of infant deaths are caused by birth defects making it the leading cause of all infant deaths (“Data & Statistics”). These defects can happen as a result of a failed abortion or during a pregnancy after an
"Fetal Development: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. Web. 06 Mar. 2011. .
Sadler, T. W., and Jan Langman. Langman's Medical Embryology. Philadelphia: Lippincott Williams & Wilkins, 2006. Print.
The In story “The Birthmark” by Nathaniel Hawthorne he begins by introducing the main character whose name is Aylmer. Aylmer s a brilliant scientist and natural philosopher who has left behind his experiments to marry beautiful Georgiana. We are told Georgiana is blessed with a birthmark upon her face. The narrator explains that the birthmark on her cheek is a red mark in the shape of a tiny hand on her left cheek. The mark disappears when she blushes; male admirers love the birthmark, and would do anything just to kiss it.
wide scale basis to pregnant women, over 3,000 babies were born with deformities which was