What is Edwards syndrome?

Easily described, the chromosomes are the structure that carry our genes. Most people have 46 chromosomes assembled in 23 couples, one half of every couple comes from the father and the other half from the mother. The 22 first couples are named after their number (1-22) while the last couple, the sex chromosomes, are labeled X and Y. A male has one of each (XY) and a woman has two X chromosomes (XX).

Edwards syndrome means that there is an extra chromosome 18 in all of the cells and three chromosomes instead of two in the 18th couple of chromosomes.

The syndrome is named after the English geneticist John Hilton Edward who described it in 1960.

Children with Edwards syndrome are often in need of a lot of care during the neonatal period, and it is important that families get social and psychological support early in the process.

The chromosome abnormality also causes harm on the heart, brain, kidneys and intestines. These hard combination of complications often results in miscarriage during fetal stage. Kids that survive the first year possess a possibility to live many kids- and youth years.

A few people (less than 5%) with Edwards syndrome have chromosome mosaicism, which means that there is a mix of cells with a regular set of chromosomes and cells with an extra chromosome 18. In these cases the symptoms tend to be less complicated.