Clinical Genetics

Edward’s syndrome

Introduction to Edward’s syndrome

Edward’s syndrome is a serious genetic disorder resulting in abnormal development and premature death. It is sometimes called ‘trisomy 18,’ as it is caused by an abnormal, additional 18th chromosome.

Written by Doctify Team 27/04/2020

What is Edward’s syndrome?

Edward’s syndrome is a serious genetic disorder resulting in abnormal development and premature death. The disorder is sometimes called ‘trisomy 18,’ as it is caused by an abnormal, additional 18th chromosome. This genetic anomaly results in disruption of the child’s normal development, often causing miscarriage or stillbirth. Only 1 in 12 babies born with the condition survive more than one year, living with severe mental and physical disability. The condition is uncommon, affecting around 1 in 5000 live births.

What causes Edward’s syndrome?

Human genetic information is held inside cells on structures called chromosomes. Usually, each cell in the body has 23 pairs of chromosomes. In other words, two copies of chromosome 1, two copies of chromosome 2, two copies of chromosome 3, and so on until chromosome 23. In Edward’s syndrome, the baby has three copies of chromosome 18 instead of two copies. Most of those affected will have the full form of the condition, where every cell in their body has three copies of chromosome 18. However, around 5% of those with Edward’s syndrome will have the additional copy of chromosome 18 in only a proportion of cells; this is less severe and called mosaic trisomy 18.
There is nothing that can be done to prevent the condition; it develops randomly during the production of eggs and sperm. As such, it is extremely rare for parents to have more than one pregnancy affected by the condition. The chance of having a child with the condition increases with the mother’s age.

What are the symptoms of Edward’s syndrome?

Babies born with the condition have a group of physical features such as a small head, long fingers, cleft lip or palate, low-set ears, and exomphalos (where the intestines are positioned in a sac outside the tummy). Furthermore, babies have severe learning disabilities, bone abnormalities, and problems with their heart, kidneys and lungs.

How is Edward’s syndrome treated?

Currently, there is no cure for Edward’s syndrome. The disease is difficult to manage and treatment typically focusses on immediately life-threatening problems.
Can I test for Edward’s syndrome during pregnancy?
Between 10 and 14 weeks of pregnancy, women are offered the combined test. This involves a blood test and an ultrasound scan to assess chances of the baby developing Edward’s syndrome, Down’s syndrome or Patau’s syndrome. If the screening test suggests high risk, you will be offered a diagnostic test to confirm whether or not the baby has the condition. This can be done by chorionic villus sampling or amniocentesis.

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