Humans have 23 pairs of chromosomes. On the other hand, there are some cases wherein an individual gets an extra chromosome, and when that happens, different parts of the body will be affected and there is a greater chance that the person will have distinctive facial feature. When this happens to a person, he or she may have Edwards’s disease or Trisomy 18, a genetic disorder that is characterized with the occurrence of extra material from chromosome 18, thus the name Trisomy 18. The word Trisomy is being used to describe the presence of three chromosomes instead of the usual pair of chromosomes.
It is also given the name Edward’s Disease because the name of the physician or doctor who discovers this disease is named Edward (“What is Trisomy 18”). Edwards disease is a rare and very serious condition, out of 8,000 live births it is estimated that 1 will have this disease. Unfortunately, it is said that 90 percent of the babies born with Edwards disease die when they reach the age of 1 (Kugler). There are three types of Trisomy 18. First type is Full Trisomy 18; it is the most common type of Trisomy 18. In this condition the extra chromosome takes place in every cell in the infant’s body.
This type of Trisomy is not hereditary and does not have anything to do with what the parents did or did not do during the course of pregnancy. Second type is partial Trisomy 18. This type of Trisomy is a very rare case among the Edward’s disease. They happen when only a certain part of chromosome is present. Some of the partial Trisomy 18 may be caused genetically; in other words, it can be inherited from the parent. In such a case when the disease was genetically acquired, a piece of chromosome 18 happened to be attached to another chromosome before or right after conception.
The third and last type is the mosaic Trisomy 18. This type of Trisomy 18 is also very rare just like the partial Trisomy 18. It happens when the additional chromosome is present in some but not all of the cells of a person’s body. This type of Trisomy 18 cannot be inherited and it rarely happens during the cell division (“What is Trisomy 18”). Etiology There are 23 pairs of chromosomes that will be coming from the mother and father during the conception period. Therefore there are a total of 46 chromosomes in every cell and two of each type and an individual should receive exactly half of the genes from each parent.
There are times that error occurs during the egg and sperm cell formation, hence there are extra chromosomes formed and can result to Trisomy 18 (“What is Trisomy 18”). Symptoms Edwards Disease can fatally affect all parts of the body’s organs and systems. Different symptoms can be observed and seen to a baby with Trisomy 18. Some symptoms that can be seen physically are; clenched hands, crossed legs, abnormally shaped head, overlapping fingers, low birth weight, low set ears, separation between the left and right side of the rectus abdominis muscle, small head, small jaw, underdeveloped fingernails and unusual shaped chest.
The nervous system and the brain are also affected and the person can develop mental retardation and delayed development in motor and physical aspects. Seizures may also occur and physical malformations on the brain can happen as well that can lead to brain defects (Gersen and Keagle, 548). Furthermore, there can also be problems in the formation of the person’s digestive tract, urinary tract and even the genitals of the person may have malformations too. Normally, a child after delivered cries aloud, while babies with Edward’s disease have a very weak cry. Their size is relatively smaller also to the expected normal size of infants.
Moreover, they can have problems in feeding and some of them have cleft lip ad palate and their ability to hear can also be loss (Kugler). Diagnosis Looking at the physical appearance of a baby after birth will determine whether he or she has Edwards’s disease. Before birth some tests can be administered to the expecting mother such as ultrasound. Ultrasound can help discover abnormalities in the baby while they are inside their mother’s womb (Kugler). To confirm whether the baby has Edward’s disease a blood test can help and be given to see if there is a presence of 18 chromosomes.
Genetic testing can also determine and help in the diagnosis of this disease. In addition ultrasound of the heart and abdomen as well as x-rays can be also a way of diagnosing Edward’s disease. Furthermore, analyzing the cells before a mother gave birth by looking at amniotic fluid or placenta can detect Edward’s disease. These types of tests are said to be accurate and about 99% sure to diagnose this type of disease (Chen). Prevalence According to the Genetic Home reference, 1 per 5,000 to 6,000 newly born babies is affected by Edward’s disease.
In the United States there is about 1 incident of Edwards’s disease in 3000 babies born annually. Therefore this disease is very rare. But research found out that about 80% of the population of individual’s with Edward’s disease is female. Edward’s disease or Trisomy 18 can also impinge on people of different race or ethnic background, thus it can happen to anybody all over the world (Chen). Prognosis Research said that about fifty percent of babies or infants with Edward’s disease do not survive beyond the first week after they were born.
Although in rare cases some children makes it and able to survive until they reach their teenage years, however they suffer from serious medical and developmental problems. Since these individual’s have a lot of problems in their mental and physical state it is very difficult for them and for their family or caregivers to take care of their condition and live a normal life (Chen). Treatment At the first stage of life, an infant with Edward’s disease of Trisomy 18 should receive a special attention and medical care. Focusing on giving nutrition, treating different infections and managing problem in the heart of the baby is very important.
However, because of the fatal and different complications that an infant can have thee is a very little chance of survival among individuals with Edward’s disease. For individuals with feeding problems it is required to give nasogastric and gastrostomy supplementation in order to sustain their life. Cardiac management is basically needed because most of the children have problems in their heart. I addition, some surgical procedures is another type of treatment; however because of the poor prognosis on this disease most doctors do not advise this type of cure to children with Trisomy 18.
There is no special diet required also among children with this disease and activities such as physical activities are very limited because of the presence of mental retardation and the child is physically handicap at the same time (Chen). Lastly, drugs or any other types of medications is not possible to be given to individual’s with Edward’s disease as for doctors and experts are still finding way to improve and discover advance in medical care for children with Trisomy 18 (Kugler). Conclusion
Edward’s Disease or Trisomy 18 is a serious disease, though it is said to be rare, one can still not be sure whether it is going to happen or not to their child. There are no preventive measures given but just for mother’s to take extra good care while they are pregnant. Being aware and having enough knowledge about Edward’s disease is very important so that people will be able to understand and know this type of disease just in case it happened to them or to anybody that they know.
Works Cited
Chen, Harold. “Trisomy 18.” Medscape. 8 August 2007. 12 December 2008 <http://emedicine. medscape. com/article/943463-overview>. Gersen, Steven L. and Martha B. Keagle. The Principles of Clinical Cytogenetics. Totowa, New Jersey: Humana Press Inc. 2005. Kugler, Mary. “Trisomy 18 (Edwards Syndrome)”. About. com. 4 May 2004 12 December 2008 <http://rarediseases. about. com/cs/chromosome18/a/050104. htm> “What is Trisomy 18”. Trisomy 18 Foundation. 2008. 12 December 2008. http://www. trisomy18. org/site/PageServer? pagename=whatisT18_whatis