Down Syndrome Research Paper

Down syndrome is one of the most common chromosomal abnormalities. It occurs in about 1 of every 830 children born in the United States. It is named after Dr John Langdon Down, who described the syndrome in 1866. Down syndrome is an aneuploid condition, hence why it is also commonly referred to as trisomy 21. It occurs as a result of a major error in human oocyte meiosis that causes a nondisjunction of homologous chromosome 21 at the first meiotic division and culminates in the oocyte having an extra chromosome 21(Wolpert et al 2011:338). Although there is no known specific cause of the nondisjunction, there is a positive correlation with an increase in maternal age and the risks of producing offspring with the syndrome. Down syndrome …show more content…
The various screening techniques are the combined test, the quad screen, the integrated and the cell free foetal DNA. They involve ultrasonography (to look for signs of Down syndrome such as extra fluid around the back of the neck), blood testing of the mother (to measure the amount of various chemicals in the blood or look for small pieces of foetal DNA) or measuring of maternal serum. Although these screening tests are not able to give an exact diagnosis of Down syndrome, they do give a measure of the risk. Diagnostic tests are usually performed on women that have a positive screening test, which implies that the foetus has a high risk of Down syndrome. These tests are more invasive and potentially harmful to the foetus, however they are usually very accurate and able to give an exact diagnosis. The various techniques are; chorionic villus sampling (examining materials from the placenta), amniocentesis (collecting shed epithelial cells from a sample of amniotic fluid) and Percutaneous umbilical blood sampling (centres for disease control and prevention …show more content…
Although one may see benefits of the screening to the pregnant woman, there seem to be little or none in sight for the foetus.This calls into question the reason for the screening as diagnostic tests are usually performed with the intention of benefiting the person affected by the disease. Some experts believe in the concept of the ‘foetal patient’ that is, the idea that medical practitioners owe the foetus a degree of beneficence. This however clashes with the duty to respect the autonomy of the maternal patient, that is the duty to allow her make her own choice without constraints (Reed 2013: 136). Although the foetus may be owed beneficence, it is not an autonomous individual as this testing occurs within the context of pregnancy, the mother remains the primary decision maker. In other words the life of the foetus is figuratively in her hands. Medical practitioners are obligated to inform parents about any prenatal or postnatal diagnosis, regardless of the consequences it might have on the

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