Edwards Syndrome: Trisomy Eighteen
Congenital abnormalities constitute for many genetic defects during conception. During the process of Meiosis, cell division of a diploid cell occurs, which results in a four haploid progeny cells. These cells have half of the genetic information from the original parental diploid cell (Pearson School 2011). Twenty-three chromosomes are present in each cell. Once the sperm and the egg meet, Meiosis begins. This process of splitting cells and DNA replication can result in genetic information to be transferred, deleted, or relocated on accident. Twenty-three chromosomes from the father and twenty-three chromosomes from the mother combined, resulting in forty-six chromosomes in each cell. A congenital abnormality that results from an extra copy of chromosome eighteen is called Edwards’ disease or Trisomy eighteen. During Meiosis, chromosome eighteen is duplicated three times, causing developmental issues that are life threatening. This genetic defect in most cases causes the fetus to be stillborn at birth (Trisomy 18 foundation, 2010). According to Thomas Weiss, “Edwards' syndrome is associated with a broad spectrum of abnormalities which consist of greater than one-hundred and thirty discrete defects involving the brain, heart, craniofacial structure, kidneys and stomach.” The purpose of this paper is to examine what Edward’s syndrome is: diagnosing, symptoms, treatment/management and prognosis.
Diagnosing
Diagnosing a Trisomy Eighteen infant, starts with genetic testing when the infant is in utero. A Trisomy Eighteen chromosomal defect occurs one out of every six thousand births. Genetic testing is preformed after ultrasound detects abnormalities. An ultrasound alone is not able to diagnosis an infant with Edwards’ Syndrome. This is used as a routine check-up to look at the growth and development of the fetus. Ultra sounds can detect abnormalities where further testing should be conducted. The only ways to confirm a positive test of chromosome eighteen is by Amniocentesis and/or Chorionic Villus sampling (Melissa S., 2012). Amniocentesis is done by inserting a needle into the pregnant mother’s abdomen and collecting a sample of the amniotic fluid that surrounds the fetus (Melissa S., 2012). Chorionic Villus sampling is done by two methods, which include either inserting a needle into the mother’s abdomen or the insertion of a catheter into the vagina. This is where a collection of placenta cells are taken to examine the genetic information (Melissa S., 2012). Early detection of a triple chromosome eighteen allows for the parents of the baby to make a decision on whether to continue with the pregnancy or to terminate the fetus.
Symptoms
Symptoms of Edwards’ syndrome may not always be easily recognized. Many genetic disorders have similar presenting features. A Trisomy eighteen fetus will exhibit both physical and internal abnormalities. Physically, the infant present an unusually small head, small lower mandible and mouth, hands are usually clenched with short fingernails, low setting ears and smooth feet with no creases. The infant will also have abnormal hands and feet, webbed or overlapping (Sims , n.d.). Internal deformities can differ from infant to infant depending on how the genetic information was transcribed. The infant can have brain, heart and kidney problems, sensory problems, feeding problems, hernias, bone abnormalities, frequent lung and urinary infections and severe learning disabilities (Symptoms of Edwards Syndrome - RightDiagnosis.com., 2013).
Treatment/Management
Edwards’ syndrome is treated with palliative care. It is up to the physician on whether surgical intervention is appropriate for the infant. Surgery can fix many major organ issues, however it will not be able to fix the developmental delays the individual will face during childhood development. Management options are discussed case by case with the families of a Trisomy eighteen baby. Management options might include treatment of infections: upper respiratory infections (URI) or urinary tract infections (UTI), and monitoring for sepsis (Harold, 2011). Since the outcome of many born with this syndrome is fatal, controversy surrounds treatment options and palliative care due to the lack of research on the efficacy of treatment (Harold, 2011). Further research needs to be conducted in order to provide evidence that interventions that are preformed in the hospital with a Trisomy eighteen infant are effective.
Prognosis
The prognosis for a child who is diagnosis with Edwards’ syndrome is fatal due to the nature of the syndrome and the major organ it affects. There has been a reported case of a few Trisomy eighteen babies who have made it into adult hood, but have severe developmental impediments (Danielsson, 2009). Many fetuses that are diagnosed with this syndrome never make it into the world, as they are either miscarried or stillborn. It has been documented that only five to ten percent of infants who are diagnosed with Edwards’ syndrome live passed one year of life because of its severe life threatening complications (Danielsson, 2009). Most infants who are delivered die in the first month of life, due to their inability to sustain life on their own. There are a few infants who are delivered that are able to learn how to smile, feed, breathe, and roll over if they make it passed the first few months of life (Weiss, T., 2010). Overall, the prognosis for Edwards’ syndrome is usually fatal with a few exceptions.
Conclusion
Overall Edwards’ syndrome can be detected early in the utero, but usually the outcome is fatal for the fetus. Many who do survive have severe developmental problems and do not make it into adulthood; however, there have been a few cases where individuals have beaten the odds. Characteristics of Edwards’ syndrome are similar to other genetic disorders and can only be diagnosed by genetic testing such as a Amniocentesis and/or Chorionic Villus sampling. There are limited treatment options because there is no way to prevent this syndrome due to it happening spontaneously during Meiosis. Chromosome eighteen is copied three times in one cell, making their twenty-four chromosomes in each cell. This is where the developing fetus starts to develop genetic defects because the genetic information has abnormalities. The human body is run off genetic information, any abnormalities can cause serve effects such as a Trisomy eighteen abnormality.

References
Pearson School. (2011). Retrieved from http://www.phschool.com/science/biology_place/biocoach/meiosis/intro.html
Trisomy 18 foundation. (2010). Retrieved from http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis
Weiss, T. (2010). Retrieved from http://www.disabled-world.com/disability/types/edwards-syndrome.php
Danielsson, K. (2009). Retrieved from http://miscarriage.about.com/od/onetimemiscarriages/p/trisomy18.htm
Harold Chen. (2011). Retrieved from http://emedicine.medscape.com/article/943463-treatment
Melissa S. (2012). Retrieved from http://www.medicinenet.com/trisomy_18/page3.htm
Sims , J. (n.d.). Retrieved from http://www.healthofchildren.com/E-F/Edwards-Syndrome.html
Symptoms of Edwards Syndrome - RightDiagnosis.com. (2013). Retrieved 25, 2013, from http://www.rightdiagnosis.com/e/edwards_syndrome/symptoms.htm