Newborn Genetic Screening
explanatory Essay
795 words
The purpose of newborn genetic screening is to screen newborns for potential health concerns. Newborn genetic screening started in 1965 with the testing of one disorder, phenylketonuria (WDHS). Since then, newborn genetic screening has evolved and over 4 million newborns are screened in the U.S. every year (CCHC Report). Currently, in the state of Wisconsin, there are 47 different disorders that are tested for (WDHS). The process of screening newborns is a relatively short procedure. Before a newborn leaves the hospital a nurse pricks its heel and takes a few drops of blood and deposits it on a special test paper. The paper is then sent to a lab where technicians look for disorders in their genes. Wisconsin law (statues chapter 253.13) “requires that all babies born in hospitals in Wisconsin have newborn screening before they leave the hospital.” The screening costs $69.50 but is covered by most health insurances, if it’s not covered it is encouraged that contact is made with the Newborn Screening Coordinator at the Wisconsin Division of Public Health. However, $69.50 may be the price to pay for the peace of mind knowing that your baby is healthy. Sickle cell anemia is present in one out of every two African Americans (google health). Sickle cell anemia is passed down through families and makes red blood cells form in a crescent shape. However, red blood cells are normally a disc shape. This is a very painful disorder that requires ongoing treatment and without treatment life expectancy of the patient is dramatically decreased. With newborn genetic screening it’s possible to catch this disorder early in life and ensure the proper treatments that could save the newborns life. Discovering a hereditary disorder like sickle cell... ... middle of paper ... ...enetics.utah.edu/content/health/ngs/> • "Children and Youth with Special Health Care Needs Program Newborn Screening." Wisconsin Department of Health Services. 07 10 2009. Web. 20 Feb 2010. . • "Sickle Cell Anemia ." Google Health. Google , Web. 20 Feb 2010. https://health.google.com/health/ref/Sickle+cell+anemia • "Newborn Genetic Screening Mandate." Citizens Council on Healthcare . Web. 20 Feb 2010. . • Brase, Twila. "NEWBORN GENETIC SCREENING." Citizens Council on Healthcare . Web. 21 Feb 2010. . • "Genetic Counseling." genomics.energy.gov. 29 11 2008. Web. 21 Feb 2010. .
In this essay, the author
- Explains that newborn genetic screening started in 1965 with the testing of one disorder, phenylketonuria. since then, over 4 million newborns are screened in the u.s. every year.
- Explains that wisconsin law requires newborn screening before leaving the hospital. the screening costs $69.50 but is covered by most health insurances.
- Explains that sickle cell anemia is present in one out of every two african americans. it is passed down through families and makes red blood cells form in a crescent shape.
- Opines that newborn genetic screening positively affects the community, but there are also negative benefits that raise questions about the ethics involved in genetic testing.
- Explains that the psychological and financial strain on newborns and their families are two of the negative benefits of newborn genetic screening. the psychological burden put on a family after receiving devastating news about their newborn could cause stress, anxiety, guilt, and impaired self esteem.
- Explains the negative benefit of newborn genetic screening, which is the reliability of the process.
- Explains that while the negative benefits of newborn genetic screening may seem severe, there are ways to combat them. they believe it is ethical to require that infants be tested for genetic disorders.
- Cites the american academy of pediatrics committee on bioethics and genetic testing.
- Explains the wisconsin department of health services' "children and youth with special health care needs program newborn screening" and "sickle cell anemia".
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- The Pros of Prenatal Genetic Testingopinion essayThe Pros of Prenatal Genetic Testing Many medical advances are being made today in the area of genetics. One of the most talked about is prenatal genetic testing. The purpose of prenatal genetic testing is to obtain information on a baby's health before they are born. This new technology will definitely improve the quality of human life. Diseases will be diminished and through new advances some diseases might even be eliminated.
In this essay, the author
- Opines that prenatal genetic testing will improve the quality of human life by obtaining information on a baby's health before they are born.
- Explains that many people have a negative outlook on prenatal genetic testing because they are not educated on the goals and actual applications of the technology.
- Explains the medical advances being made feasible by genetic testing. understanding genes in the developing human will help doctors understand the nature of genetic diseases and may lead to countless other medical breakthroughs.
- Opines that prenatal genetic testing is to improve life through good health.
- Opines that prenatal genetic testing will also benefit society as a whole. if there are less people born with health problems the cost of health care will be lower.
- Opines that prenatal genetic testing can positively impact life, and that medical advances that are discovered and made possible will definitely improve life.
468 wordsRead More - Genetically Transmitted Disorder: How to Detect Down's Syndromeexplanatory essayJeffrey S. Dungan &; Sherman Elias (Last revision 2008). "Prenatal diagnostic testing". Merck manual home health handbook.
In this essay, the author
- Explains that the following table(3)(6) provides the percentages of occurrence of some of the most common physical symptoms.
- Explains that the most common neurological symptom is a reduced intellective quotient (iq). most recipients of down's syndrome exhibit mild iq, but greater mental impairments are diffused.
- Explains that congenital heart diseases occur in more than a third of newborns and that people with down's syndrome suffer less from arteriosclerosis.
- Explains that although affected individuals have a higher probability of contracting leukemia, the chances of developing solid neoplasm are lower because of the increased number of tumour-suppressor genes present on the three 21st chromosomes.
- Explains medical resonance imaging (mri), also known as ultrasound test, exploits ultrasound waves, harmless to both the foetus and the mother, to look for abnormalities through translucency.
- Explains that the venipuncture test is a more reliable alternative to mri, and is usually run along with it during first and second trimesters to provide most accurate outcomes.
- Explains that only amniocentesis and chorionic villous sampling can give a final diagnosis. screening techniques only determine the risk of the embryo being affected by down's syndrome.
- Explains that the most immediate way to check a baby after birth is through physical traits, namely the symptoms, and venipuncture.
- Analyzes the health and disease in adults with down syndrome. tidsskrift for den norske laegeforening.
- Explains patterson, d., "molecular genetic analysis of down syndrome." human genetics 126 (1): 195–214.
- Explains that hammer, stephen j. mcphee, gary d., "pathophysiology of selected genetic diseases".
- Explains howard reisner, essentials of rubin’s pathology, lippincott williams & wilkins, pp. 129-131.
- Opines that faragher, edited by rhonda, and clarke, barbara, educating learners with down syndrome research, theory and practice with children and adolescents.
- Describes epstein, charles j., the consequences of chromosome imbalance: principles, mechanisms, and models.
- Cites acog committee on practice bulletin no. 77: screening for fetal chromosomal abnormalities.
- Cites the national institute for health and clinical excellence (2008). "cg62: antenatal care".
- Explains the noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.
- Explains that dna sequencing versus standard prenatal aneuploidy screening is a key component of the care study.
- Explains that behavior phenotypes and special educational needs: is aetiology important in the classroom?
- Explains hickey, e, and summar, kl's "medical update for children with down syndrome for the pediatrician and family practitioner."
- Describes pradhan, dalal, khan, agrawal, and khan. "fertility in men with down syndrome: a case report".
- Explains that jeffrey s. dungan & sherman elias (last revision 2008). "prenatal diagnostic testing". merck manual home health handbook.
- Explains that amniocentesis and chorionic villus sampling for prenatal diagnosis in alfirevic, zarko.
- Explains down syndrome and other abnormalities of chromosome number in the nelson textbook of pediatrics.
- Describes the ethical considerations in first-trimester down syndrome risk assessment in current opinion in obstetrics & gynecology.
- Explains bill j leonard and jill y. crainshaw's encyclopedia of religious controversies in the united states.
- Explains that down's syndrome, also known as trisomy 21, is the most common genetically transmitted disorder. it is caused by a double 21st chromosome in either of the parental gametes.
- Explains that sight-related disorders occur in half of the affected population. strabismus and cataracts touch 20% of affected people, but white spots on both irises occur on 60% of influenced individuals. hearing problems include otitis and chronic ear canal infections.
- Explains that females have less than half of the chances of being fertile compared to healthy women, but there are a few cases of pregnancies among the affected community, and the average year of menopause is skewed towards youth.
- Explains that the acog committee on practice and the national institute for health and clinical excellence recommend that all pregnant women undergo screening to detect trisomy 21 in fetus.
- Explains that amniocentesis is the first choice to confirm the presence of down's syndrome in an embryo older than 15 weeks. the accuracy is close to 100% and false positives are almost 0% frequent.
- Opines that it is unethical to terminate a pregnancy if the baby will have down syndrome, since the couple should have decided to take that risk before having sexual relations.
1033 wordsRead More - "Screening Creates Disease Free Baby." Medicine, Health, and Bioethics: Essential Primary Sources. Ed. K. Lee Lerner and Brenda Wilmoth Lerner. Detroit: Gale, 2006. 477-479. Opposing Viewpoints in Context. Web. 13 Jan. 2014.
In this essay, the author
- Opines that designer babies are the next step in the evolution of humans, and its natural process is being developed through technology and techniques.
- Explains that the term "designer babies" isn't a specific real science, but it's an under-science and specific concentration in the science of genetic engineering.
- Explains that genetic engineering involves changing the protein sequence in a gene to produce an improved version of the organism.
- Explains that most scientists believe in the morals and ethics of genetic engineering, but it doesn't mean they can advance as fast as the discoveries and knowledge of creating a designer baby.
- Explains that genetic engineering can help families and their children with serious genetic diseases, but it's hard to implement because of how restricted and criticized it is.
- Opines that genetic engineering is not good, its lack of limitations can be abused, and it can give families the "upper edge" in basically creating their baby.
- Explains that humanity will go down this path for two reasons. the first is that there is no need to pursue the technology directly, and the second is because humans have always used technology to enhance their lives.
- Opines that people use technology to improve their lives, such as computers, cameras, phones, tablets, cars, etc. designer babies will allow parents to have their ideal child.
- Opines that if we were not dependent on peoples idealism in society, this would be an easier topic to address with all types of people.
- Explains that "enhancing humans through science is beneficial." designer babies. ed. clayton farris naff. detroit: greenhaven press, 2013.
- Opines that genetic engineering is natural and should be pursued.
- Describes the current issues of the macmillan social science library, including "genetic engineering" and "designer babies: at issue."
- Analyzes stock, gregory, and clayton farris naff's "from regenerative medicine to human design: what are we really afraid of."
1106 wordsRead More - Genetic Testing or Genetic Screeningopinion essayGenetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to what degree we are allowed to tamper with the human genome. To better understand the potential impact of genetic screening on our society, we must examine the potential benefits in comparison to the possible negative impact it may cause. With this knowledge in hand, we can examine what the future holds for this field of study and the best possible direction to take.
In this essay, the author
- Argues that genetic screening has many revolutionary applications, but personalized medicine is the most significant.
- Opines that genetic screening could have serious unintended consequences for the public, allowing insurers and employers to use that information to deny coverage and benefits.
- Opines that progress is inevitable and research into the human genome will most likely continue.
- Opines that legalizing over-the-counter genetic testing would provide solutions to some of the problems facing the field of study.
- Opines that genetic screening should be allowed to continue but only under heavy scrutiny from regulating bodies.
- Explains that genetic testing, also known as screening, is a rapidly advancing scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives.
- Cites coughlin, s.s., and weeks, c. (2002). future challenges for research on diagnostic tests: genetic tests and disease prevention.
1504 wordsRead More - The Genetic Screening Debatecomparative essayThe Genetic Screening Debate Within the past thirty years, researchers have found strong evidence linking genes and disease. The development of predictive genetic tests followed shortly after the isolation of certain candidate genes. Although predictive genetic screening is only available for a handful of diseases, its effects and ramifications have become hotly debated issues in a wide range of areas, from government to religion. The debate began in the 1993 when researchers isolated the BRCA1 gene, which is associated with increased risk of developing breast and ovarian cancer.
In this essay, the author
- Explains that proponents believe that people from high-risk families can gain many benefits from knowing whether or not they carry a genetic mutation.
- Describes the biology of genetic testing, and then discusses the pros and cons of it.
- Concludes that genetic tests do not provide definitive results and therefore should not be used.
- Explains that genetic testing for cancer is here, whether we need it or not.
1835 wordsRead More - Pregnant Women and Amniocentesis Testexplanatory essayOwing to a new era in medical advancements, expecting parents have numerous opportunities to monitor and test the health of both the pregnant woman and the infant. Parental procedures for the diagnosis of foetal genetic disorders offer families valuable knowledge of the genetic makeup of their child.
In this essay, the author
- Explains the increasing age of pregnant women is parallel to the increased risk of producing a foetal abnormality.
- Explains that women with partners who have a family history of genetic disorder or chromosomal abnormality should be screened.
- Explains that amniocentesis is performed in the second trimester of pregnancy, at 15 to 20 weeks. the fluid contains cells shed from the foetus, all presenting a complete set of the baby's dna.
- Explains that the position of the foetus and the placenta is determined by an ultrasound scan.
- Explains that the operator will decide a safe insertion site for the needle based on the ultrasound image.
- Explains that the operator may inject a local anaesthetic to numb the surface of the abdomen.
- Explains that the doctor will introduce the long, thin needle through the abdominal wall into the uterus and then enter the amniotic sac.
- Explains that the doctor needs to extract a small sample of amniotic fluid. this takes approximately 30 seconds.
- Explains that down syndrome affects a person's physical appearance, mental development, and learning ability. it is the result of an extra chromosome, known as trisomy-21.
- Explains edwards syndrome, a condition that causes severe physical and mental abnormalities. it is the result of an extra chromosome known as trisomy-18.
- Explains patow syndrome, a rare, but serious condition where infants rarely survive for more than several days, is the result of an extra chromosome, known as trisomy-13.
- Explains sickle cell anaemia, a condition where red blood cells are an unusual shape and texture.
- Explains that amniocentesis can test for neural tube defects, which is done by measuring the level of substance called alpha-fetoprotein (afp)
- Explains that amniocentesis can also be used to diagnose conditions that affect the musculoskeletal system.
- Explains that spontaneous abortion can occur in less than 1% of women undergoing this test. exact figures are hard to calculate since some miscarriages would have happened anyway, with or without the amniocentesis.
- Explains that vaginal leakage can occur in less than 1% of cases. amniotic fluid may leak from the vagin.
- Explains that if a mother is rh negative, she may form antibodies that attack the infant's red blood cells.
- Explains that the needle used during the procedure may accidentally come into contact with a part of the infant’s body.
- Opines that laboratory failure is rare, and that the specimen fails to give a result, making it difficult to interpret.
- Describes amniocentesis as the gold standard of invasive genetic parental diagnosis.
- Explains that the laboratory process involves growing the retrieved cells to expose the infant's dna. amniocentesis can detect chromosomal and other birth abnormalities as the result of the dna error.
- Explains that muscular dystrophy is an inherited condition that causes muscles to gradually weaken, resulting in an increasing level of disability.
- Argues that the cost of amniocentesis is largely limited by economic, over medical constraints.
1581 wordsRead More - Genetic Testing During Pregnancyopinion essayGenetic testing before or during pregnancy is something that I strongly agree with and is something I suggest everyone should do. Genetic testing is taking that extra precaution before or during birth. By performing this type of testing before/during getting pregnant it can catch certain disorders you might have. These tests show whether you have an increase or decrease change of having a child with genetic abnormality. I personally would get these types of testing to give me the extra reassurance for a healthy baby. I feel that many things can go wrong during birth and consider that everyone gets genetic testing before thinking about having kids. These genetics tests are to help us through the process of birth. You can perform genetic testing
In this essay, the author
- Opines that genetic testing can help prevent harm before and during pregnancy.
325 wordsRead More - Genetic Testinganalytical essayGenetic Testing The technologies available to aid in diagnosing genetic diseases and disorders have developed extraordinarily over the years. As a result, one topic up for discussion is how the technology should be used in the realm of diagnosing children before birth, mainly, using it to selectively screen embryos for genetic diseases. Leon Kass is one author who opposes genetic testing. He provides two main reasons why he feels it is morally wrong to use genetic screening on unborn children.
In this essay, the author
- Opines that those affected with down's syndrome will suffer tremendously, including socially and emotionally. it is a chromosomal abnormality that results from faulty eggs or sperm.
- Argues that kass's second point is that we easily slide from possession to identity when we describe an individual, but he is wrong about the reasons behind it.
- Analyzes leon kass' persuasive argument against genetic testing. he provides examples of how those suffering from genetic diseases are later selected against will suffer significant emotional distress and social alienation.
- Explains that leon kass opposes the use of genetic screening on unborn children.
- Analyzes how kass believes genetic testing is morally wrong. he believes that children born with a genetic disorder will be treated differently by their parents and others.
1262 wordsRead More - Persuasive Essay On Genetic Testingexplanatory essayIn recent years, genetic testing has become a popular topic in the media. Usually involving cheek swabs, blood samples, or amniotic fluid samples, the procedure is relatively simple and can help diagnose genetic disorders, determine ideal medication types, or simply determine the patient’s heritage. It has saved many lives from cancer and other afflictions, but to say that genetic testing is always the correct choice is false. There are many issues with the tests, considering that they are new to the medical world. Genetic testing is mostly harmful because of privacy concerns, how underdeveloped it is, and the risk of it pushing a mother to abort her child.
In this essay, the author
- Explains that genetic testing has saved many lives from cancer and other afflictions, but to say that it is always the correct choice is false. genetic testing is harmful because of privacy concerns, how underdeveloped, and the risk of pushing a mother to abort her child.
- Explains that until the genetic nondiscrimination act (gina) was passed in 2008, employers could deny people jobs and insurance companies could raise rates solely based on a person’s genetic makeup.
- Opines that genetic testing is too widely available, and until there are more restrictions it is probably best to not get tested.
- Explains that dna testing has only been around since the mid-1980’s, so it is still underdeveloped.
- Explains that genetic testing is the most well-known use for finding disorders in a fetus. it seems strange that people rely on tests like this before they even see the child and can know for sure if they have any disorders.
- Opines that taking a genetic test is risky and that companies can publicise or use the results against the patient, even though this is illegal.
740 wordsRead More - The Pros And Cons Of Congenital Heart Infantsexplanatory essayEvery newborn is examined by a physician to make sure everything is optimal at birth. A series of newborn screening tests are additionally done to infants for consecutive months to check for “developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early” (U.S. National Library of Medicine, 2014 [1]). According to the Centers for Disease and Control Prevention (2013), “each state runs its own newborn screening program.” Most states have common screening programs which test the blood, hearing, and screening for congenital heart defects.
In this essay, the author
- Explains that every newborn is examined by a physician to make sure everything is optimal at birth. a series of newborn screening tests are done to check for developmental, genetic, and metabolic disorders in the newborn baby.
- Explains that babies with a critical congenital heart defect (cchd) are at significant risk of disability or death if their condition is not diagnosed soon after birth.
- Explains that wolff-parkinson-white syndrome is a condition in which the heart has an extra electrical pathway that bypasses the normal route of electrical conduction causing the child's heart rate to increase dramatically.
- Explains that it is important to know the anatomy and physiology of the heart in order to understand wpw syndrome.
- Explains that the heart is composed of four chambers, which work in harmony to distribute blood evenly through the body.
- Explains how electrical stimulation causes the heart to contract and produce a heartbeat. deoxygenated blood enters the right atrium through the superior vena cava.
- Describes how the electrical signal produced by the sa node eventually reaches the atrioventricular (av) node and pauses to make sure the blood has filled up the ventricles.
- Explains that the right and left ventricles relax and the heart assumes a resting state. this cycle repeats infinitely to pump the blood that our body needs to keep us alive.
- Explains wpw syndrome, which causes the heart to beat abnormally, and describes supraventricular tachycardia and atrial fibrillation.
- Explains that people with wpw syndrome have an accessory pathway (bridge) in the heart that connects the atria with the ventricles.
- Explains that wpw syndrome occurs randomly in the general population and is more prevalent in men than women. it can also be inherited if parents have accessory pathway genes.
1266 wordsRead More