Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with severe intellectual disability and abnormalities in many parts of the body.
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18.
Trisomy 18 occurs in about 1 in 5,000 newborns. It is the second most common autosomal trisomy, after Down Syndrome, that carries to term. Approximately 80 percent of newborns affected by this disorder are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.
Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body’s cells.
Individuals with trisomy 18 often have:
- Low birth weight
- Small, abnormally shaped head
- Small jaw and mouth
- Clenched fists with overlapping fingers
- Heart defects
- Abnormalities of other organs
Due to the presence of several life-threatening medical problems, many infants with trisomy 18 die within their first month. Five percent to 10 percent of children with this condition live past their first year.
Treatment of trisomy 18 is supportive. Most of these children require a diuretic and digoxin for congestive heart failure. Drug therapy currently is not a component of the standard of care for trisomy 18.
Mosaic Trisomy 18
Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body’s cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. The development of individuals with this form of trisomy 18 may range from normal to severely affected.
Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body’s cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.
Translocation Trisomy 18
Very rarely, the long (q) arm of chromosome 18 becomes attached to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected people have two copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. If only part of the q arm is present in three copies, the physical signs of translocation trisomy 18 may be different from those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18.
Translocation trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.