Edwards Syndrome

Victoria Haskins
Biology Honors
Mr. Kelly
March 6th, 2017
Edwards Syndrome
Edwards syndrome, also known as Trisomy 18, is a condition caused by a mistake in meiotic cell division resulting in an extra chromosome 18 in a developing baby (Source 1). This condition disrupts normal development, potentially fatally, even before birth (Source 1). Major characteristics of the disorder include a delay in growth, a low birth weight, and other major medical complications (Source 1, Source 3). Professor of genetics at Birmingham University, John Hilton Edwards, first described its symptoms in 1960 (Source 2, Source 6). Edwards syndrome is a common trisomy disorder, second only to Down’s syndrome (Source 2). The error occurs in one in every 2500 United
A person with Edwards syndrome may also have problems with the heart or kidney, breathing problems, feeding problems, bone abnormalities, or a learning disability (Source 3). Someone with this syndrome may also be prone to more frequent infections, such as of the lungs or urinary system (Source 3). Of those afflicted with Edwards syndrome, few survive to be discharged from the hospital with home nursing support to assist with care by the parents (Source 1). Despite the low newborn survival rates, some children with Edwards syndrome that can enjoy years with their families and community involvement (Source 1). A small number of adults live into their twenties, although they are unable to live independently and must have full time caregiving because of serious delays in development (Source 1). The majority of those who are non-mosaic can rarely speak or walk (Source 5). Those with mosaic trisomy 18 have less severe symptoms and may have up to above average intelligence; however, they may have the similar physical abnormalities as those with full trisomy 18, the severity depending on how many affected cells are present
If they are discharged from the hospital, the parents will need full-time medical help (Source 1). In the long-term, the mortality rate is high, and prolonged survival is rare. Support organizations mainly focus on advising families to be ready for the death of their child (Source 2). Each patient will have specific problems for which they may need specialist care (Source 3). Immediate treatment will focus on pressing life-threatening issues, such as heart problems or infections (Source 3). Families who seek long-term treatment for their child will be counseled on a case-by-case basis (Source 2), but medical care will have more focus on keeping the child comfortable than prolonging his or her life (Source 7). Surgery can treat abnormalities to a degree, but invasive procedures may not be in the best interests of a child with this prognosis (Source 7). Edwards syndrome is currently incurable (Source 2). A feeding tube may be necessary for children with feeding problems (Source 3). As one of the common chromosomal errors that can still result in a live birth, Edwards syndrome and its effects has been studied and well-documented, but the syndrome is thus far incurable (Source