Edwards syndrome (Trisomy 18)
Key facts
- Edwards syndrome is a rare genetic condition.
- It's caused when your baby has an extra copy of chromosome 18.
- Edwards syndrome causes serious health problems and disabilities.
What is Edwards syndrome?
Edwards syndrome is a genetic condition that causes serious health problems and disabilities. It's caused by an extra copy of chromosome 18.
Edwards syndrome is very rare. About 1 in 5000 babies has Edwards syndrome.
Sadly, most babies with this condition die before or soon after birth.
What are the symptoms of Edwards syndrome?
Babies with Edwards syndrome may have:
- problems gaining weight and growing
- low muscle tone
- an unusual-looking face and head
- learning disabilities
- unusual hands and feet with overlapping fingers and webbed toes
- heart problems
- kidney problems
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What causes Edwards syndrome?
Children with Edwards syndrome have 3 copies of part or all of chromosome 18. This is why it's also called trisomy 18. People who don't have this condition have 2 copies of chromosome 18.
It is usually caused by a change in the egg or sperm before the baby is conceived.
Types of Edwards syndrome
Full Edwards syndrome — is when your baby has an extra copy of chromosome 18 in all their cells.
Mosaic Edwards syndrome — is when your baby has an extra copy of chromosome 18 in some of their cells.
Other trisomy conditions
Other conditions caused by trisomy are:
- Down syndrome — 3 copies of chromosome 21
- Patau's syndrome — 3 copies of chromosome 13
How is Edwards syndrome diagnosed?
Edwards syndrome can be suspected or even diagnosed during pregnancy.
Sometimes the possibility of Edwards syndrome is raised at the 11 to 13-week pregnancy screening test. This is usually an ultrasound and blood test.
It's also possible to screen for Edwards syndrome through non-invasive prenatal testing (NIPT). This is a blood test taken from 10 weeks of pregnancy.
These tests can give an indication that Edwards syndrome is likely. However, the only definite way to diagnose Edwards syndrome is through genetic testing. This can be done during pregnancy using:
Both these tests have a very small risk of miscarriage. You can talk to your doctor or midwife about this.
If a diagnosis of Edwards syndrome is confirmed your doctor will talk to you about your options. This conversation will likely include a discussion about the possible termination of the pregnancy.
Sometimes, Edwards syndrome is not suspected during pregnancy, and is only discovered when your baby is born.
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How is Edwards syndrome treated?
There is no cure for babies with Edwards syndrome. Unfortunately, it's rare for a baby with full Edwards syndrome to survive their first year of life.
Babies with Edwards syndrome may need treatment in the neonatal intensive care unit. Palliative care treatment may be offered for some babies and children with this condition.
Most babies with Edwards syndrome live for only a few days or weeks after birth.
Specific treatment for Edwards syndrome focusses on health conditions, such as:
- heart problems
- breathing problems
- infections
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Can Edwards syndrome be prevented?
Edwards syndrome is a genetic disease, so can't be prevented.
The condition does not usually run in families. It's not caused by anything you have done.
Complications of Edwards syndrome
Edwards syndrome is linked to certain physical features and health problems.
All babies born with Edwards syndrome will have some level of learning disability.
Resources and support
Visit healthdirect's genetic disorders guide to learn more about genetic disorders and where to go for help and more information.
Visit the Pregnancy, Birth and Baby website for more information on prenatal screening.
You may want to contact Rare Voices Australia (RVA) — the national peak body for Australians living with a rare disease. Their RARE Helpline is available Monday to Friday from 9am to 5pm on 0499 549 629.
You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.
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Last reviewed: November 2023
