Edwards' Syndrome is a rare genetic disorder caused by irregularities with the 18th chromosomal pair, appearing in around one out of every 600,000 births. It is characterized by serious birth defects, with most infants dying within the first few months of life, since their bodies are so severely impaired. In some cases, Edward's Syndrome may be less severe because the chromosomal defect only appears in certain parts of the body, in a condition called mosaicism. Because the condition is so serious, the prognosis is generally very poor.
The condition was first identified in 1960 by John H. Edwards, after whom Edwards' Syndrome is known. It may also be known as trisomy 18, in a reference to the genetic defect which causes the condition, and the chromosome which it concerns. Like other chromosomal abnormalities, Edwards' Syndrome can be identified during routine prenatal testing, and it is not preventable; it is also not inherited, except in an instance where a parent carries a gene for translocation, which causes chromosomes to swap places.
There are several ways in which the chromosomal abnormality associated with Edwards' Syndrome can manifest. In all cases, the condition is a form of trisomy, meaning that there is an extra copy of the chromosome. In most cases, Edwards' Syndrome is a true trisomy, with the three copies of the 18th chromosome being attached to each other. This is the most severe form; many fetuses with true trisomy are spontaneously aborted by the mother's body very early on in the pregnancy.
In some instances, the defect is a result of translocation, meaning that the extra chromosome is attached to another of the body's chromosomes. Translocation may result in a less severe case of Edwards' Syndrome, depending on the fetus' individual situation. Mosaicism, briefly mentioned above, is the least impairing form of Edwards' Syndrome, although it can still result in substantial problems.
Like other genetic disorders, Edwards' Syndrome is associated with serious developmental and mental delays. The nervous system and organs are usually severely impaired, with many birth defects appearing around the head and face. The child may have a misshapen or extremely small head, and he or she will experience frequent seizures and breathing problems as a result of the condition.
In most cases, only analgesia is offered to a child with Edwards' Syndrome. Although interventions such as surgery can be undertaken, most parents opt out of invasive and traumatic procedures, since the child will probably die anyway. Gentle care and pain management make the child's brief time on Earth more pleasant.
