Trisomy 18 syndrome

What is Trisomy 18 syndrome?

Also known as Edwards syndrome, it is a rare chromosomal syndrome that presents with anomalies and symptoms that affect many parts of the body. Due to the severity of symptoms many infants with the condition die before birth or in the first month of life. The 5-10% of children who survive the first year have severe intellectual disability. The risk of having a child with the syndrome increases with the age of the mother.

What gene changes cause Trisomy 18 syndrome?

The syndrome is caused by the presence of three copies of chromosome 18 in each cell rather than two. In the 5% of people with an extra chromosome 18 in just some of the cells of the body they have a form of the condition known as mosaic trisomy 18.

The majority of cases occur as the result of random events during the reproductive process. It is usually not inherited.

What are the main symptoms of Trisomy 18 syndrome?

The main symptoms of the syndrome include slow growth before birth with a subsequent low birth weight.

Physical features of the syndrome include a small head, an abnormally shaped head, small jaw and mouth and fists that are clenched with overlapping fingers.

Congenital heart defects and organ abnormalities are common and are usually diagnosed before birth. These serious medical conditions contribute to the short life expectancy of infants with the syndrome, many of whom do not survive birth.

In the small number of infants with the syndrome who survive the first year, intellectual disability is a major symptom of the condition.

How does someone get tested for Trisomy 18 syndrome?

The initial testing for Trisomy 18 syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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