Down Syndrome, Prenatal Genetic Testing and Tough Decisions

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Down Syndrome, Prenatal Genetic Testing and Tough Decisions


Choosing whether or not to keep an unborn fetus, after genetic testing shows the child has Down syndrome, is a difficult decision for most women. Genetic testing is a sophisticated diagnostic test used today to determine the health of a fetus. While they are most often prescribed for mothers-to-be over the age of 5, who run the highest risk of having children with birth defects, younger women frequently request them simply to set their minds at ease. When problems are found women are faced with agonizing choices Terminate the pregnancy or face the risks of bringing a seriously impaired child into the world.


“Each day, genetic tests allow women to learn that the children they carry will be born free of disorders from Down syndrome. But they also mean that, each day, a growing number of parents face the agonizing responsibility of deciding whether their children will be too disabled, too retarded or too chronically ill to be born at all. And with new genes discovered every month, there now are prenatal tests for at least 00 inherited conditions, perhaps 10 times as many as when testing began, opportunities for both relief and agony only grow. The pace of discovery is continually escalating, says Aubrey Milunsky, a prenatal testing pioneer who directs the Center for Human Genetics at Boston University School of Medicine. It is now possible to detect a much larger number of genetic defects in a fetus earlier in a pregnancy than has ever been possible before. The progress has raised a painful question even among people not directly involved Does prenatal testing and abortion of affected fetuses send the message that the lives of people with mental and physical disabilities are not worth living?” (How much 1)


“Individuals with Down syndrome have a short, stocky build, with a short neck and a smaller than average skull, usually flat in back. Their distinctive facial features are the upward-slanting, almond-shaped eyes on which an early name used for the condition�mongolism�was based. Other facial characteristics include a small nose with a flat bridge; a fold of skin (the epicanthal fold) at the inner corner of the eye; a large, protruding tongue (which makes normal speech difficult); and light spots at the edge of the iris (Brushfield spots). The outer ear and chin are generally small. The hands are small, with short fingers, a curved little finger, and a line on the palm called the Simian line. Children and adults with Down syndrome tend to have sweet and docile temperaments; they are generally cheerful, cooperative, affectionate, and relaxed.” (Down Syndrome 1)





“Unlike many other genetic anomalies, such and Down syndrome, is not a terminal disorder. Children born with Down Syndrome are not vegetables, nor are their lives demonstrably not worth living. Indeed, advances in science and changes in public perception have combined to make Down Syndrome a relatively mild birth defect The average child born with Down Syndrome in America today can expect to reside at home, go to school, learn how to read, hold a job, and live to the age of 55. He will grow up cognizant of ethics and events, and will be mildly to moderately retarded, with an IQ of between 55 and 70. It is one of the triumphs of modern society that the life of the average person with Down Syndrome has become strikingly normal. Except that, unlike normal people, people with Down Syndrome have been targeted for elimination.” (Carlson 1) Science can warn parents their unborn child is genetically impaired. That knowledge presents some agonizing choices. “Prenatal testing is about reassurance Couples expect to learn their babies will be fine. But its also, often, about avoiding the births of disabled children. (Three families Three Decisions 1)


“The rapid growth of prenatal testing has had some undeniably positive effects A woman who knows she will bear a child with a handicap can plan to deliver in a hospital equipped for risky births. And many couples prefer the opportunity to prepare psychologically for the work of raising a disabled child. By far the most profound effect of prenatal testing, however, has been a staggering increase in the number of abortions.” (Carlson )


“The trend is clear More testing invariably leads to more-- many more--abortions of Down syndrome children.”Most women who have children with Down syndrome did not have the amnio, says Lori Atkins of the National Down Syndrome Society, and there is growing evidence to indicate this is true. A study of data from selected states by the Centers for Disease Control found that the rate of Down Syndrome births to mothers 5 or older dropped by about a third between 18 and 10. Another study, conducted over a slightly longer period, pegged the decline at 46 percent.” (Carlson )


“So far these choices remain the province of the parents and their medical experts. Ethicists and antiabortion activists have not yet publicly grappled with this issue. But since these tests first became available in the late 160s and early 170s, the field of genetic counseling has mushroomed. Experts predict that the number of such tests given each year will continue to increase as researchers learn how to detect more diseases in utero. As the tests become more common, so will tense conversations as doctors counsel patients about genetic probability. Every time tests turn up a problem says Joe Leigh Simpson, MD., a professor of obstetrics and gynecology at the University of Tennessee, Memphis, and it’s an intensely personal decision. What might be too much for one mom to handle isn’t for another.” (Barrett 1)


For Tessie Sawyer this was her third pregnancy at age 5. Her doctor suggested that she have an alpha fetoprotein test during her 16 week. Never did she consider that anything could be wrong with the baby. After about a week the doctor concluded that the protein levels were low, which meant the possibility of Down syndrome. The doctor then suggested that she have an amniocentesis, which will confirm or rule out Down syndrome. Tessie and her husband decided not to undergo the testing because of risks of either premature labor or miscarriage for 5 months peace of mind. During the seventh month the doctor did an extensive sonogram. He measured the femur of the baby because the limbs are an area where Down syndrome shows up. Measurements were normal. There was still a seed of doubt that there was something wrong with the fetus. With the possibility of complications the doctor suggested a cesarean birth because he did not want any surprises. The doctor could tell immediately that the baby was fine. She was happy, and convinced that her decision was the right one. (Barrett 1)


For Vicky Eckel, age 0, it was her first pregnancy, and she was very excited. So when she took the alpha fetoprotein test and the levels came back elevated [a sign of possible abnormalities in the nervous system], it didnt bother her because she knew nothing could be wrong. The doctor suggested that she have another AFP test done because sometimes a high level just means that you are further along [in the pregnancy]. So she took the second test. Her levels were still high, but she didnt let it get her down. The doctor recommended she have a detailed ultrasound and an amniocentesis. When she went back to the clinic to discuss her test results, the doctor did a follow-up sonogram, and during the ultrasound he began to tell her that there was something wrong. Then they explained everything. They told her that the child had an obvious opening in her back, a defect known as spina bifida, and they suggested that she come back for counseling in a few days. She knew almost from the moment of finding out that she and her husband could not survive if they kept this pregnancy. She knew she was going to terminate the pregnancy, but of course, with the baby kicking and all, she was up and down. One minute she was thinking, how can I do it? the next minute she was thinking, This is the only thing I can do. As soon as the baby was born there would be major surgery. She just couldnt see a baby going through that. They told her that even with the surgery the child would probably be paralyzed from the waist down. She would be in a wheelchair. She would have problems with bladder control. There was a possibility of brain damage or Down syndrome. By the time she got home she knew exactly what she was going to do, and that was to terminate the pregnancy as quickly as possible. The decision wasnt hard. She did not have any regrets in doing what she did, and if she had to shed do it again. (Barrett )


Prenatal diagnosis gives women time to prepare. For some, the decision was to keep the baby. That God does not give us anything they can not handle. Despite the turmoil and rough times, the joy that this special child brings to them far out ways the pain and worry. For others, the choice to abort the baby is the right decision. The idea of bringing a seriously impaired child into the world is an agonizing responsibility. Yet some say if faced with this decision again, the out come might not be the same. Whatever the diagnosis, the choices are often an emotional one.





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