Edwards syndrome is a rare genetic disorder caused by an irregularity with the 18th chromosome pair, resulting in severe birth defects and a poor prognosis. It can be identified during routine prenatal testing and is not preventable. Most babies die within the first few months of life.
Edwards syndrome is a rare genetic disorder caused by an irregularity with the 18th chromosome pair, occurring in approximately one in every 600,000 births. It is characterized by severe birth defects, with most babies dying within the first few months of life, as their bodies are so severely impaired. In some cases, Edward syndrome may be less severe because the chromosomal defect appears in only certain parts of the body, in a condition called mosaicism. Because the condition is so serious, the prognosis is usually very poor.
The condition was first identified in 1960 by John H. Edwards, from whom Edwards syndrome is known. It may also be known as trisomy 18, referring to the genetic defect that causes the condition and which chromosome it is. Like other chromosomal abnormalities, Edwards syndrome can be identified during routine prenatal testing and is not preventable; it is also not inherited, unless one parent carries a gene for the translocation, which causes chromosomes to swap places.
There are several ways in which the chromosomal abnormality associated with Edwards syndrome can manifest itself. In all cases, the condition is a form of trisomy, meaning there is an extra copy of the chromosome. In most cases, Edwards syndrome is true trisomy, with the three copies of the eighteenth chromosome 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 in the pregnancy.
In some cases, the defect is the result of a translocation, which means that the extra chromosome is attached to another of the body’s chromosomes. The translocation can cause a less severe case of Edwards syndrome, depending on the individual situation of the fetus. Mosaicism, briefly mentioned above, is the least harmful form of Edwards syndrome, although it can still pose substantial problems.
Like other genetic disorders, Edwards syndrome is associated with severe developmental and mental delays. The nervous system and organs are usually severely affected, with many birth defects appearing around the head and face. Your child may have a misshapen or extremely small head and will experience frequent seizures and breathing problems as a result of the condition.
In most cases, only pain relief is offered to a child with Edwards syndrome. While interventions such as surgery can be undertaken, most parents forgo invasive and traumatic procedures, as the child will likely die anyway. Gentle care and pain management make your child’s short time on Earth more enjoyable.
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